rs941838

Variant names:

• chr14-99950319-C-A
• rs941838

Your query was ambiguous. Multiple possible variants found:

• chr14-99950319-C-A
• chr14-99950319-C-G
• chr14-99950319-C-T

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 0.9 in 152,182 control chromosomes in the GnomAD database, including 62,280 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 0.90 (62280 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.250
• Publications: 2 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.87).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.964 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: 0.900 AC: 136863 AN: 152064 Hom.: 62243 Cov.: 31

Gnomad AFR AF: 0.758

Gnomad AMI AF: 0.927

Gnomad AMR AF: 0.944

Gnomad ASJ AF: 0.979

Gnomad EAS AF: 0.987

Gnomad SAS AF: 0.939

Gnomad FIN AF: 0.971

Gnomad MID AF: 0.918

Gnomad NFE AF: 0.950

Gnomad OTH AF: 0.929

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

GnomAD4 genome AF: 0.900 AC: 136953 AN: 152182 Hom.: 62280 Cov.: 31 AF XY: 0.904 AC XY: 67241 AN XY: 74396

African (AFR) AF: 0.758 AC: 31451 AN: 41466

American (AMR) AF: 0.944 AC: 14447 AN: 15300

Ashkenazi Jewish (ASJ) AF: 0.979 AC: 3400 AN: 3472

East Asian (EAS) AF: 0.987 AC: 5104 AN: 5172

South Asian (SAS) AF: 0.939 AC: 4520 AN: 4814

European-Finnish (FIN) AF: 0.971 AC: 10305 AN: 10612

Middle Eastern (MID) AF: 0.915 AC: 269 AN: 294

European-Non Finnish (NFE) AF: 0.950 AC: 64652 AN: 68030

Other (OTH) AF: 0.929 AC: 1960 AN: 2110

Alfa AF: 0.918 Hom.: 9412

Bravo AF: 0.892

Asia WGS AF: 0.950 AC: 3305 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.87
CADD	Benign	7.0
DANN	Benign	0.71
PhyloP100		0.25

Splicing

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

Other links and lift over

dbSNP: rs941838; hg19: chr14-100416656;