rs4905179

Variant names:

• chr14-94329155-A-G
• rs4905179

Your query was ambiguous. Multiple possible variants found:

• chr14-94329155-A-G
• chr14-94329155-A-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 0.179 in 152,184 control chromosomes in the GnomAD database, including 3,207 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 0.18 (3207 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.0580
• Publications: 15 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.93).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.447 is higher than 0.05.

Variant Effect in Transcripts

 

RefSeq Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
There are no transcript annotations for this variant.

Ensembl Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
There are no transcript annotations for this variant.

Frequencies

GnomAD3 genomes AF: 0.179 AC: 27255 AN: 152066 Hom.: 3204 Cov.: 33

Gnomad AFR AF: 0.0542

Gnomad AMI AF: 0.161

Gnomad AMR AF: 0.273

Gnomad ASJ AF: 0.134

Gnomad EAS AF: 0.462

Gnomad SAS AF: 0.130

Gnomad FIN AF: 0.233

Gnomad MID AF: 0.123

Gnomad NFE AF: 0.210

Gnomad OTH AF: 0.193

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

GnomAD4 genome AF: 0.179 AC: 27260 AN: 152184 Hom.: 3207 Cov.: 33 AF XY: 0.184 AC XY: 13685 AN XY: 74410

African (AFR) AF: 0.0542 AC: 2251 AN: 41554

American (AMR) AF: 0.274 AC: 4184 AN: 15284

Ashkenazi Jewish (ASJ) AF: 0.134 AC: 465 AN: 3462

East Asian (EAS) AF: 0.462 AC: 2389 AN: 5170

South Asian (SAS) AF: 0.130 AC: 625 AN: 4826

European-Finnish (FIN) AF: 0.233 AC: 2466 AN: 10584

Middle Eastern (MID) AF: 0.122 AC: 36 AN: 294

European-Non Finnish (NFE) AF: 0.210 AC: 14296 AN: 67988

Other (OTH) AF: 0.190 AC: 401 AN: 2110

Alfa AF: 0.197 Hom.: 8217

Bravo AF: 0.185

Asia WGS AF: 0.278 AC: 961 AN: 3474

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.93
CADD	Benign	4.2
DANN	Benign	0.77
PhyloP100		-0.058

Splicing

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

Other links and lift over

dbSNP: rs4905179; hg19: chr14-94795492;