rs705381

chr7-95324637-T-C

Variant summary

Our verdict is Benign. Variant got -14 ACMG points: 0P and 14B. BP4_Strong BP6_Moderate BA1

The variant allele was found at a frequency of 0.752 in 701,980 control chromosomes in the GnomAD database, including 200,185 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★).

• Frequency:
  • Genomes: 𝑓 0.73 (40603 hom., cov: 34)
  • Exomes 𝑓: 0.76 (159582 hom.)
• Consequence: Unknown
• Clinical Significance: Benign criteria provided, single submitter B:1
• Conservation: PhyloP100: -0.332

ACMG classification

Verdict is Benign. Variant got -14 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.91).
• BP6: Variant 7-95324637-T-C is Benign according to our data. Variant chr7-95324637-T-C is described in ClinVar as [Benign]. Clinvar id is 1268484.Status of the report is criteria_provided_single_submitter, 1 stars.
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.849 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Appris	UniProt

Frequencies

GnomAD3 genomes AF: 0.726 AC: 110386 AN: 152048 Hom.: 40564 Cov.: 34

Gnomad AFR AF: 0.606

Gnomad AMI AF: 0.786

Gnomad AMR AF: 0.807

Gnomad ASJ AF: 0.810

Gnomad EAS AF: 0.870

Gnomad SAS AF: 0.719

Gnomad FIN AF: 0.781

Gnomad MID AF: 0.778

Gnomad NFE AF: 0.756

Gnomad OTH AF: 0.756

GnomAD4 exome AF: 0.760 AC: 417587 AN: 549816 Hom.: 159582 Cov.: 6 AF XY: 0.756 AC XY: 222248 AN XY: 293806

Gnomad4 AFR exome AF: 0.603

Gnomad4 AMR exome AF: 0.812

Gnomad4 ASJ exome AF: 0.808

Gnomad4 EAS exome AF: 0.884

Gnomad4 SAS exome AF: 0.711

Gnomad4 FIN exome AF: 0.775

Gnomad4 NFE exome AF: 0.754

Gnomad4 OTH exome AF: 0.757

GnomAD4 genome AF: 0.726 AC: 110475 AN: 152164 Hom.: 40603 Cov.: 34 AF XY: 0.732 AC XY: 54421 AN XY: 74396

Gnomad4 AFR AF: 0.606

Gnomad4 AMR AF: 0.807

Gnomad4 ASJ AF: 0.810

Gnomad4 EAS AF: 0.870

Gnomad4 SAS AF: 0.719

Gnomad4 FIN AF: 0.781

Gnomad4 NFE AF: 0.756

Gnomad4 OTH AF: 0.760

Alfa AF: 0.756 Hom.: 35682

Bravo AF: 0.727

Asia WGS AF: 0.803 AC: 2794 AN: 3478

ClinVar

Significance: Benign

Submissions summary: Benign:1

Revision: criteria provided, single submitter

Submissions by phenotype

not provided Benign:1

Benign, criteria provided, single submitter

clinical testing

GeneDx

Jun 19, 2021

This variant is associated with the following publications: (PMID: 11335891) -

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.91
Cadd	Benign	0.75
Dann	Benign	0.31

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

Publications

LitVar

Other links and lift over

dbSNP: rs705381; hg19: chr7-94953949;