rs1957481

Variant names:

• chr14-43924621-T-C
• rs1957481

Your query was ambiguous. Multiple possible variants found:

• chr14-43924621-T-C
• chr14-43924621-T-G

Variant summary

Our verdict is Benign. The variant received -12 ACMG points: 0P and 12B. BP4_Strong BA1

The variant allele was found at a frequency of 0.371 in 151,908 control chromosomes in the GnomAD database, including 11,509 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 0.37 (11509 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.737
• Publications: 0 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.01).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.471 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: 0.371 AC: 56317 AN: 151788 Hom.: 11502 Cov.: 31

Gnomad AFR AF: 0.249

Gnomad AMI AF: 0.590

Gnomad AMR AF: 0.281

Gnomad ASJ AF: 0.377

Gnomad EAS AF: 0.159

Gnomad SAS AF: 0.239

Gnomad FIN AF: 0.453

Gnomad MID AF: 0.332

Gnomad NFE AF: 0.476

Gnomad OTH AF: 0.350

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

GnomAD4 genome AF: 0.371 AC: 56339 AN: 151908 Hom.: 11509 Cov.: 31 AF XY: 0.363 AC XY: 26920 AN XY: 74232

African (AFR) AF: 0.249 AC: 10320 AN: 41424

American (AMR) AF: 0.281 AC: 4289 AN: 15278

Ashkenazi Jewish (ASJ) AF: 0.377 AC: 1307 AN: 3468

East Asian (EAS) AF: 0.159 AC: 819 AN: 5136

South Asian (SAS) AF: 0.241 AC: 1162 AN: 4826

European-Finnish (FIN) AF: 0.453 AC: 4775 AN: 10546

Middle Eastern (MID) AF: 0.344 AC: 101 AN: 294

European-Non Finnish (NFE) AF: 0.476 AC: 32301 AN: 67918

Other (OTH) AF: 0.345 AC: 727 AN: 2106

Alfa AF: 0.301 Hom.: 1004

Bravo AF: 0.354

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-1.0
CADD	Benign	2.1
DANN	Benign	0.56
PhyloP100		-0.74

Splicing

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

Other links and lift over

dbSNP: rs1957481; hg19: chr14-44393824;