rs1953232

Variant names:

• chr14-65103668-C-A
• rs1953232

Your query was ambiguous. Multiple possible variants found:

• chr14-65103668-C-A
• chr14-65103668-C-G

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 0.485 in 152,038 control chromosomes in the GnomAD database, including 20,577 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 0.48 (20577 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.20

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.88).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.773 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: 0.485 AC: 73609 AN: 151920 Hom.: 20540 Cov.: 32

Gnomad AFR AF: 0.780

Gnomad AMI AF: 0.326

Gnomad AMR AF: 0.309

Gnomad ASJ AF: 0.284

Gnomad EAS AF: 0.415

Gnomad SAS AF: 0.493

Gnomad FIN AF: 0.421

Gnomad MID AF: 0.370

Gnomad NFE AF: 0.373

Gnomad OTH AF: 0.433

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

GnomAD4 genome AF: 0.485 AC: 73696 AN: 152038 Hom.: 20577 Cov.: 32 AF XY: 0.482 AC XY: 35839 AN XY: 74298

Gnomad4 AFR AF: 0.780

Gnomad4 AMR AF: 0.309

Gnomad4 ASJ AF: 0.284

Gnomad4 EAS AF: 0.415

Gnomad4 SAS AF: 0.492

Gnomad4 FIN AF: 0.421

Gnomad4 NFE AF: 0.373

Gnomad4 OTH AF: 0.432

Alfa AF: 0.370 Hom.: 5460

Bravo AF: 0.485

Asia WGS AF: 0.471 AC: 1640 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.88
CADD	Benign	1.0
DANN	Benign	0.66

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs1953232; hg19: chr14-65570386;