rs7156317

Variant names:

• chr14-60621022-G-A
• rs7156317

Your query was ambiguous. Multiple possible variants found:

• chr14-60621022-G-A
• chr14-60621022-G-C

Variant summary

Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_Strong BA1

The variant allele was found at a frequency of 0.831 in 152,198 control chromosomes in the GnomAD database, including 53,608 homozygotes. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

• Frequency: Genomes: 𝑓 0.83 (53608 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.0620

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.89).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.902 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt

Frequencies

GnomAD3 genomes AF: 0.831 AC: 126401 AN: 152080 Hom.: 53591 Cov.: 32

Gnomad AFR AF: 0.654

Gnomad AMI AF: 0.914

Gnomad AMR AF: 0.883

Gnomad ASJ AF: 0.883

Gnomad EAS AF: 0.850

Gnomad SAS AF: 0.728

Gnomad FIN AF: 0.968

Gnomad MID AF: 0.788

Gnomad NFE AF: 0.908

Gnomad OTH AF: 0.829

We have no GnomAD4 exomes data on this position. Probably position not covered by the project.

GnomAD4 genome AF: 0.831 AC: 126457 AN: 152198 Hom.: 53608 Cov.: 32 AF XY: 0.833 AC XY: 61954 AN XY: 74406

Gnomad4 AFR AF: 0.654

Gnomad4 AMR AF: 0.883

Gnomad4 ASJ AF: 0.883

Gnomad4 EAS AF: 0.850

Gnomad4 SAS AF: 0.730

Gnomad4 FIN AF: 0.968

Gnomad4 NFE AF: 0.908

Gnomad4 OTH AF: 0.829

Alfa AF: 0.880 Hom.: 15019

Bravo AF: 0.820

Asia WGS AF: 0.782 AC: 2721 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.89
CADD	Benign	0.90
DANN	Benign	0.52

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs7156317; hg19: chr14-61087740;