chr19-10987748-G-A

Variant names:

• chr19-10987748-G-A
• rs567283924
• NM_001387283.1:c.942G>A

Variant summary

Our verdict is Benign. The variant received -21 ACMG points: 0P and 21B. BP4_Strong BP6_Very_Strong BP7 BS1 BS2

The NM_001387283.1(SMARCA4):​c.942G>A​(p.Ala314Ala) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000176 in 1,598,276 control chromosomes in the GnomAD database, including 2 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★★). Synonymous variant affecting the same amino acid position (i.e. A314A) has been classified as Likely benign.

• Frequency:
  • Genomes: 𝑓 0.000073 (0 hom., cov: 32)
  • Exomes 𝑓: 0.00019 (2 hom.)
• Consequence: SMARCA4 NM_001387283.1 synonymous
• Clinical Significance: Benign/Likely benign criteria provided, multiple submitters, no conflicts B:5
• Conservation: PhyloP100: -3.75
• Publications: 0 publications found

Genes affected

SMARCA4 (HGNC:11100): (SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4) The protein encoded by this gene is a member of the SWI/SNF family of proteins and is similar to the brahma protein of Drosophila. Members of this family have helicase and ATPase activities and are thought to regulate transcription of certain genes by altering the chromatin structure around those genes. The encoded protein is part of the large ATP-dependent chromatin remodeling complex SNF/SWI, which is required for transcriptional activation of genes normally repressed by chromatin. In addition, this protein can bind BRCA1, as well as regulate the expression of the tumorigenic protein CD44. Mutations in this gene cause rhabdoid tumor predisposition syndrome type 2. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2012]

SMARCA4 Gene-Disease associations (from GenCC):

• Coffin-Siris syndrome

  Inheritance: AD Classification: DEFINITIVE, SUPPORTIVE Submitted by: ClinGen, Orphanet, Illumina
• intellectual disability, autosomal dominant 16

  Inheritance: AD Classification: DEFINITIVE, STRONG Submitted by: G2P, Labcorp Genetics (formerly Invitae), Ambry Genetics
• rhabdoid tumor predisposition syndrome 2

  Inheritance: AD Classification: DEFINITIVE, STRONG Submitted by: Ambry Genetics, ClinGen, Genomics England PanelApp, Labcorp Genetics (formerly Invitae), G2P
• uterine corpus sarcoma

  Inheritance: AR Classification: MODERATE Submitted by: Genomics England PanelApp
• familial rhabdoid tumor

  Inheritance: AD Classification: SUPPORTIVE Submitted by: Orphanet
• hereditary nonpolyposis colon cancer

  Inheritance: AD Classification: LIMITED Submitted by: ClinGen

ACMG classification

Our verdict: Benign. The variant received -21 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.54).
• BP6: Variant 19-10987748-G-A is Benign according to our data. Variant chr19-10987748-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 415055.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr19-10987748-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 415055.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr19-10987748-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 415055.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr19-10987748-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 415055.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr19-10987748-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 415055.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr19-10987748-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 415055.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr19-10987748-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 415055.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr19-10987748-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 415055.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr19-10987748-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 415055.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr19-10987748-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 415055.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr19-10987748-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 415055.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr19-10987748-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 415055.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr19-10987748-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 415055.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr19-10987748-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 415055.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr19-10987748-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 415055.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr19-10987748-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 415055.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr19-10987748-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 415055.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr19-10987748-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 415055.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr19-10987748-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 415055.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr19-10987748-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 415055.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr19-10987748-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 415055.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr19-10987748-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 415055.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr19-10987748-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 415055.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr19-10987748-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 415055.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr19-10987748-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 415055.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr19-10987748-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 415055.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr19-10987748-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 415055.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr19-10987748-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 415055.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr19-10987748-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 415055.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr19-10987748-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 415055.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr19-10987748-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 415055.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr19-10987748-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 415055.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr19-10987748-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 415055.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr19-10987748-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 415055.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr19-10987748-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 415055.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr19-10987748-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 415055.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr19-10987748-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 415055.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr19-10987748-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 415055.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr19-10987748-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 415055.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr19-10987748-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 415055.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr19-10987748-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 415055.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr19-10987748-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 415055.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr19-10987748-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 415055.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr19-10987748-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 415055.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr19-10987748-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 415055.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr19-10987748-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 415055.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr19-10987748-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 415055.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr19-10987748-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 415055.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr19-10987748-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 415055.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr19-10987748-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 415055.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr19-10987748-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 415055.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr19-10987748-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 415055.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr19-10987748-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 415055.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr19-10987748-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 415055.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr19-10987748-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 415055.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr19-10987748-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 415055.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr19-10987748-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 415055.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr19-10987748-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 415055.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr19-10987748-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 415055.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr19-10987748-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 415055.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr19-10987748-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 415055.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr19-10987748-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 415055.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr19-10987748-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 415055.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr19-10987748-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 415055.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr19-10987748-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 415055.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr19-10987748-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 415055.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr19-10987748-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 415055.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr19-10987748-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 415055.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr19-10987748-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 415055.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr19-10987748-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 415055.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr19-10987748-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 415055.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr19-10987748-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 415055.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr19-10987748-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 415055.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr19-10987748-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 415055.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr19-10987748-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 415055.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr19-10987748-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 415055.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr19-10987748-G-A is described in CliVar as Benign/Likely_benign. Clinvar id is 415055.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars.
• BP7: Synonymous conserved (PhyloP=-3.74 with no splicing effect.
• BS1: Variant frequency is greater than expected in population sas. GnomAd4 allele frequency = 0.0000727 (11/151324) while in subpopulation SAS AF = 0.00231 (11/4760). AF 95% confidence interval is 0.0013. There are 0 homozygotes in GnomAd4. There are 7 alleles in the male GnomAd4 subpopulation. Median coverage is 32. This position passed quality control check.
• BS2: High Homozygotes in GnomAdExome4 at 2 AD,AR gene

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt
SMARCA4	NM_001387283.1	c.942G>A	p.Ala314Ala	synonymous_variant	Exon 6 of 36	ENST00000646693.2	NP_001374212.1
SMARCA4	NM_003072.5	c.942G>A	p.Ala314Ala	synonymous_variant	Exon 6 of 35	ENST00000344626.10	NP_003063.2

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt
SMARCA4	ENST00000646693.2	c.942G>A	p.Ala314Ala	synonymous_variant	Exon 6 of 36		NM_001387283.1	ENSP00000495368.1
SMARCA4	ENST00000344626.10	c.942G>A	p.Ala314Ala	synonymous_variant	Exon 6 of 35	1	NM_003072.5	ENSP00000343896.4
SMARCA4	ENST00000643549.1	c.942G>A	p.Ala314Ala	synonymous_variant	Exon 6 of 35			ENSP00000493975.1
SMARCA4	ENST00000541122.6	c.942G>A	p.Ala314Ala	synonymous_variant	Exon 7 of 35	5		ENSP00000445036.2
SMARCA4	ENST00000643296.1	c.942G>A	p.Ala314Ala	synonymous_variant	Exon 6 of 34			ENSP00000496635.1
SMARCA4	ENST00000644737.1	c.942G>A	p.Ala314Ala	synonymous_variant	Exon 6 of 34			ENSP00000495548.1
SMARCA4	ENST00000589677.5	c.942G>A	p.Ala314Ala	synonymous_variant	Exon 7 of 35	5		ENSP00000464778.1
SMARCA4	ENST00000643995.1	c.354G>A	p.Ala118Ala	synonymous_variant	Exon 3 of 32			ENSP00000496004.1

Frequencies

GnomAD3 genomes AF: 0.0000727 AC: 11 AN: 151210 Hom.: 0 Cov.: 32

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: 0.00231

Gnomad FIN AF: 0.00

Gnomad MID AF: 0.00

Gnomad NFE AF: 0.00

Gnomad OTH AF: 0.00

GnomAD2 exomes AF: 0.000386 AC: 83 AN: 215100 AF XY: 0.000489

Gnomad AFR exome AF: 0.00

Gnomad AMR exome AF: 0.0000612

Gnomad ASJ exome AF: 0.00

Gnomad EAS exome AF: 0.00

Gnomad FIN exome AF: 0.00

Gnomad NFE exome AF: 0.0000109

Gnomad OTH exome AF: 0.000372

GnomAD4 exome AF: 0.000187 AC: 271 AN: 1446952 Hom.: 2 Cov.: 34 AF XY: 0.000249 AC XY: 179 AN XY: 718944

African (AFR) AF: 0.0000302 AC: 1 AN: 33114

American (AMR) AF: 0.0000458 AC: 2 AN: 43630

Ashkenazi Jewish (ASJ) AF: 0.00 AC: 0 AN: 25798

East Asian (EAS) AF: 0.0000512 AC: 2 AN: 39048

South Asian (SAS) AF: 0.00284 AC: 241 AN: 85008

European-Finnish (FIN) AF: 0.00 AC: 0 AN: 50572

Middle Eastern (MID) AF: 0.000176 AC: 1 AN: 5682

European-Non Finnish (NFE) AF: 0.00000724 AC: 8 AN: 1104444

Other (OTH) AF: 0.000268 AC: 16 AN: 59656

GnomAD4 genome AF: 0.0000727 AC: 11 AN: 151324 Hom.: 0 Cov.: 32 AF XY: 0.0000947 AC XY: 7 AN XY: 73930

African (AFR) AF: 0.00 AC: 0 AN: 41216

American (AMR) AF: 0.00 AC: 0 AN: 15200

Ashkenazi Jewish (ASJ) AF: 0.00 AC: 0 AN: 3464

East Asian (EAS) AF: 0.00 AC: 0 AN: 5138

South Asian (SAS) AF: 0.00231 AC: 11 AN: 4760

European-Finnish (FIN) AF: 0.00 AC: 0 AN: 10498

Middle Eastern (MID) AF: 0.00 AC: 0 AN: 290

European-Non Finnish (NFE) AF: 0.00 AC: 0 AN: 67752

Other (OTH) AF: 0.00 AC: 0 AN: 2094

Alfa AF: 0.0000434 Hom.: 0

Bravo AF: 0.0000227

Asia WGS AF: 0.00144 AC: 5 AN: 3478

ClinVar

Significance: Benign/Likely benign

Submissions summary: Benign:5

Revision: criteria provided, multiple submitters, no conflicts

Submissions by phenotype

Hereditary cancer-predisposing syndrome Benign:2

Nov 17, 2015

Ambry Genetics

Significance: Likely benign

Review Status: criteria provided, single submitter

Collection Method: clinical testing

This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. -

Oct 11, 2021

Sema4, Sema4

Significance: Benign

Review Status: criteria provided, single submitter

Collection Method: curation

- -

Intellectual disability, autosomal dominant 16 Benign:1

Jul 15, 2021

Genome-Nilou Lab

Significance: Benign

Review Status: criteria provided, single submitter

Collection Method: clinical testing

- -

Rhabdoid tumor predisposition syndrome 2 Benign:1

Jan 30, 2025

Labcorp Genetics (formerly Invitae), Labcorp

Significance: Benign

Review Status: criteria provided, single submitter

Collection Method: clinical testing

- -

not provided Benign:1

Apr 21, 2023

Quest Diagnostics Nichols Institute San Juan Capistrano

Significance: Benign

Review Status: criteria provided, single submitter

Collection Method: clinical testing

- -

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.54
CADD	Benign	0.064
DANN	Benign	0.85
PhyloP100		-3.7
RBP_binding_hub_radar		0.0
RBP_regulation_power_radar		1.7
Mutation Taster		=100/0	polymorphism

Splicing

Name	Calibrated prediction	Score	Prediction
SpliceAI score (max)		0.030		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: rs567283924; hg19: chr19-11098424;