rs1950861

Variant names:

• chr14-26221365-G-A
• rs1950861

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 0.255 in 151,946 control chromosomes in the GnomAD database, including 5,082 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 0.26 (5082 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.175
• Publications: 4 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 (SAS) allele frequency at 95% confidence interval = 0.341 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: 0.256 AC: 38793 AN: 151828 Hom.: 5077 Cov.: 32

Gnomad AFR AF: 0.220

Gnomad AMI AF: 0.360

Gnomad AMR AF: 0.178

Gnomad ASJ AF: 0.307

Gnomad EAS AF: 0.253

Gnomad SAS AF: 0.355

Gnomad FIN AF: 0.284

Gnomad MID AF: 0.283

Gnomad NFE AF: 0.279

Gnomad OTH AF: 0.240

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

GnomAD4 genome AF: 0.255 AC: 38820 AN: 151946 Hom.: 5082 Cov.: 32 AF XY: 0.258 AC XY: 19143 AN XY: 74274

African (AFR) AF: 0.221 AC: 9139 AN: 41438

American (AMR) AF: 0.177 AC: 2710 AN: 15286

Ashkenazi Jewish (ASJ) AF: 0.307 AC: 1064 AN: 3468

East Asian (EAS) AF: 0.254 AC: 1308 AN: 5154

South Asian (SAS) AF: 0.356 AC: 1710 AN: 4810

European-Finnish (FIN) AF: 0.284 AC: 2992 AN: 10546

Middle Eastern (MID) AF: 0.274 AC: 80 AN: 292

European-Non Finnish (NFE) AF: 0.279 AC: 18985 AN: 67936

Other (OTH) AF: 0.240 AC: 505 AN: 2108

Alfa AF: 0.269 Hom.: 21437

Bravo AF: 0.241

Asia WGS AF: 0.263 AC: 913 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	1.1
DANN	Benign	0.56
PhyloP100		-0.17

Splicing

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

Other links and lift over

dbSNP: rs1950861; hg19: chr14-26690571;