NM_000535.7:c.1145-17C>T

Variant names:

• chr7-5987637-G-A
• rs587781110
• NM_000535.7:c.1145-17C>T

Variant summary

Our verdict is Benign. The variant received -12 ACMG points: 0P and 12B. BP4_Strong BP6_Very_Strong

The NM_000535.7(PMS2):​c.1145-17C>T variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000223 in 1,524,840 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★★).

• Frequency:
  • Genomes: 𝑓 0.000026 (0 hom., cov: 31)
  • Exomes 𝑓: 0.000022 (0 hom.)
• Consequence: PMS2 NM_000535.7 intron
• Clinical Significance: Benign/Likely benign criteria provided, multiple submitters, no conflicts B:4
• Conservation: PhyloP100: -0.111
• Publications: 0 publications found

Genes affected

PMS2 (HGNC:9122): (PMS1 homolog 2, mismatch repair system component) The protein encoded by this gene is a key component of the mismatch repair system that functions to correct DNA mismatches and small insertions and deletions that can occur during DNA replication and homologous recombination. This protein forms heterodimers with the gene product of the mutL homolog 1 (MLH1) gene to form the MutL-alpha heterodimer. The MutL-alpha heterodimer possesses an endonucleolytic activity that is activated following recognition of mismatches and insertion/deletion loops by the MutS-alpha and MutS-beta heterodimers, and is necessary for removal of the mismatched DNA. There is a DQHA(X)2E(X)4E motif found at the C-terminus of the protein encoded by this gene that forms part of the active site of the nuclease. Mutations in this gene have been associated with hereditary nonpolyposis colorectal cancer (HNPCC; also known as Lynch syndrome) and Turcot syndrome. [provided by RefSeq, Apr 2016]

PMS2 Gene-Disease associations (from GenCC):

• Lynch syndrome

  Inheritance: AD Classification: DEFINITIVE, SUPPORTIVE Submitted by: ClinGen, Orphanet
• Lynch syndrome 4

  Inheritance: AD Classification: DEFINITIVE, STRONG Submitted by: G2P, Labcorp Genetics (formerly Invitae), Genomics England PanelApp
• mismatch repair cancer syndrome 1

  Inheritance: AR Classification: DEFINITIVE, SUPPORTIVE Submitted by: ClinGen, Orphanet
• mismatch repair cancer syndrome 4

  Inheritance: AR Classification: DEFINITIVE, STRONG Submitted by: G2P, Labcorp Genetics (formerly Invitae)
• malignant pancreatic neoplasm

  Inheritance: AD Classification: MODERATE Submitted by: Genomics England PanelApp
• ovarian cancer

  Inheritance: AD Classification: MODERATE Submitted by: Genomics England PanelApp
• Muir-Torre syndrome

  Inheritance: AR Classification: MODERATE Submitted by: Genomics England PanelApp
• rhabdomyosarcoma

  Inheritance: AR Classification: MODERATE Submitted by: Genomics England PanelApp
• breast cancer

  Inheritance: AD Classification: LIMITED Submitted by: Ambry Genetics
• prostate cancer

  Inheritance: AD Classification: LIMITED Submitted by: Ambry Genetics
• hereditary breast carcinoma

  Inheritance: AD Classification: NO_KNOWN Submitted by: ClinGen

ACMG classification

Our verdict: Benign. The variant received -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.88).
• BP6: Variant 7-5987637-G-A is Benign according to our data. Variant chr7-5987637-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 138699.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-5987637-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 138699.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-5987637-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 138699.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-5987637-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 138699.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-5987637-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 138699.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-5987637-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 138699.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-5987637-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 138699.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-5987637-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 138699.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-5987637-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 138699.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-5987637-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 138699.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-5987637-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 138699.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-5987637-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 138699.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-5987637-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 138699.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-5987637-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 138699.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-5987637-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 138699.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-5987637-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 138699.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-5987637-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 138699.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-5987637-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 138699.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-5987637-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 138699.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-5987637-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 138699.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-5987637-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 138699.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-5987637-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 138699.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-5987637-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 138699.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-5987637-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 138699.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-5987637-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 138699.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-5987637-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 138699.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-5987637-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 138699.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-5987637-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 138699.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-5987637-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 138699.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-5987637-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 138699.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-5987637-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 138699.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-5987637-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 138699.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-5987637-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 138699.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-5987637-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 138699.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-5987637-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 138699.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-5987637-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 138699.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-5987637-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 138699.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-5987637-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 138699.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-5987637-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 138699.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-5987637-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 138699.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-5987637-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 138699.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-5987637-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 138699.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-5987637-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 138699.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-5987637-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 138699.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-5987637-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 138699.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-5987637-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 138699.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-5987637-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 138699.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-5987637-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 138699.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-5987637-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 138699.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-5987637-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 138699.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-5987637-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 138699.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-5987637-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 138699.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-5987637-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 138699.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-5987637-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 138699.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-5987637-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 138699.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-5987637-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 138699.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-5987637-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 138699.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-5987637-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 138699.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-5987637-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 138699.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-5987637-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 138699.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-5987637-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 138699.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-5987637-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 138699.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-5987637-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 138699.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-5987637-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 138699.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-5987637-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 138699.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-5987637-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 138699.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-5987637-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 138699.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-5987637-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 138699.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-5987637-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 138699.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-5987637-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 138699.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-5987637-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 138699.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-5987637-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 138699.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-5987637-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 138699.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-5987637-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 138699.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-5987637-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 138699.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-5987637-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 138699.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-5987637-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 138699.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-5987637-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 138699.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-5987637-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 138699.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-5987637-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 138699.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-5987637-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 138699.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-5987637-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 138699.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-5987637-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 138699.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt
PMS2	NM_000535.7	c.1145-17C>T		intron_variant	Intron 10 of 14	ENST00000265849.12	NP_000526.2

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt
PMS2	ENST00000265849.12	c.1145-17C>T		intron_variant	Intron 10 of 14	1	NM_000535.7	ENSP00000265849.7

Frequencies

GnomAD3 genomes AF: 0.0000263 AC: 4 AN: 152132 Hom.: 0 Cov.: 31

Gnomad AFR AF: 0.00

Gnomad AMI AF: 0.00

Gnomad AMR AF: 0.00

Gnomad ASJ AF: 0.00

Gnomad EAS AF: 0.00

Gnomad SAS AF: 0.00

Gnomad FIN AF: 0.00

Gnomad MID AF: 0.00

Gnomad NFE AF: 0.0000441

Gnomad OTH AF: 0.000478

GnomAD2 exomes AF: 0.00000420 AC: 1 AN: 238098 AF XY: 0.00000764

Gnomad AFR exome AF: 0.00

Gnomad AMR exome AF: 0.00

Gnomad ASJ exome AF: 0.00

Gnomad EAS exome AF: 0.00

Gnomad FIN exome AF: 0.00

Gnomad NFE exome AF: 0.00000913

Gnomad OTH exome AF: 0.00

GnomAD4 exome AF: 0.0000219 AC: 30 AN: 1372708 Hom.: 0 Cov.: 22 AF XY: 0.0000276 AC XY: 19 AN XY: 687810

African (AFR) AF: 0.00 AC: 0 AN: 31952

American (AMR) AF: 0.00 AC: 0 AN: 44554

Ashkenazi Jewish (ASJ) AF: 0.00 AC: 0 AN: 25650

East Asian (EAS) AF: 0.00 AC: 0 AN: 39372

South Asian (SAS) AF: 0.0000236 AC: 2 AN: 84692

European-Finnish (FIN) AF: 0.00 AC: 0 AN: 44300

Middle Eastern (MID) AF: 0.000179 AC: 1 AN: 5596

European-Non Finnish (NFE) AF: 0.0000231 AC: 24 AN: 1038740

Other (OTH) AF: 0.0000519 AC: 3 AN: 57852

GnomAD4 genome AF: 0.0000263 AC: 4 AN: 152132 Hom.: 0 Cov.: 31 AF XY: 0.0000269 AC XY: 2 AN XY: 74314

⚠️ The allele balance in gnomAD version 4 Genomes is significantly skewed from the expected value of 0.5.

African (AFR) AF: 0.00 AC: 0 AN: 41434

American (AMR) AF: 0.00 AC: 0 AN: 15250

Ashkenazi Jewish (ASJ) AF: 0.00 AC: 0 AN: 3472

East Asian (EAS) AF: 0.00 AC: 0 AN: 5194

South Asian (SAS) AF: 0.00 AC: 0 AN: 4834

European-Finnish (FIN) AF: 0.00 AC: 0 AN: 10602

Middle Eastern (MID) AF: 0.00 AC: 0 AN: 316

European-Non Finnish (NFE) AF: 0.0000441 AC: 3 AN: 68026

Other (OTH) AF: 0.000478 AC: 1 AN: 2092

⚠️ The allele balance in gnomAD version 4 Genomes is significantly skewed from the expected value of 0.5. (p-value = 0.026173), which strongly suggests a high chance of mosaicism in these individuals.

Alfa AF: 0.00120 Hom.: 0

Bravo AF: 0.0000113

ClinVar

Significance: Benign/Likely benign

Submissions summary: Benign:4

Revision: criteria provided, multiple submitters, no conflicts

Submissions by phenotype

not specified Benign:1

Mar 31, 2014

GeneDx

Significance: Benign

Review Status: criteria provided, single submitter

Collection Method: clinical testing

This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. -

Hereditary nonpolyposis colorectal neoplasms Benign:1

Jan 22, 2025

Labcorp Genetics (formerly Invitae), Labcorp

Significance: Likely benign

Review Status: criteria provided, single submitter

Collection Method: clinical testing

- -

Hereditary cancer-predisposing syndrome Benign:1

Jul 27, 2015

Color Diagnostics, LLC DBA Color Health

Significance: Likely benign

Review Status: criteria provided, single submitter

Collection Method: clinical testing

- -

Lynch syndrome 4 Benign:1

Jan 29, 2025

Myriad Genetics, Inc.

Significance: Benign

Review Status: criteria provided, single submitter

Collection Method: clinical testing

This variant is considered benign. This variant is intronic and is not expected to impact mRNA splicing. Homozygosity for this variant has been confirmed in one or more individuals lacking clinical features consistent with gene-specific recessive disease, indicating that this variant is unlikely to be pathogenic. -

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.88
CADD	Benign	1.7
DANN	Benign	0.43
PhyloP100		-0.11
Mutation Taster		=100/0	polymorphism

Splicing

Name	Calibrated prediction	Score	Prediction
SpliceAI score (max)		0.0		Details are displayed if max score is > 0.2

Find out detailed SpliceAI scores and Pangolin per-transcript scores at spliceailookup.broadinstitute.org

Other links and lift over

dbSNP: rs587781110; hg19: chr7-6027268;