rs4829605

Variant names:

• chrX-137182822-C-A
• rs4829605

Your query was ambiguous. Multiple possible variants found:

• chrX-137182822-C-A
• chrX-137182822-C-G
• chrX-137182822-C-T

Variant summary

Our verdict is Likely benign. The variant received -4 ACMG points: 0P and 4B. BP4_Strong

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 0.86 (30212 hom., 24310 hem., cov: 19)
  • Failed GnomAD Quality Control
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.164
• Publications: 1 publications found

ACMG classification

Our verdict: Likely_benign. The variant received -4 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.96).

Variant Effect in Transcripts

 

RefSeq Transcripts

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

Ensembl Transcripts

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

Frequencies

GnomAD3 genomes AF: 0.865 AC: 91061 AN: 105287 Hom.: 30216 Cov.: 19

Gnomad AFR AF: 0.565

Gnomad AMI AF: 0.998

Gnomad AMR AF: 0.937

Gnomad ASJ AF: 0.986

Gnomad EAS AF: 0.999

Gnomad SAS AF: 0.986

Gnomad FIN AF: 0.998

Gnomad MID AF: 0.961

Gnomad NFE AF: 0.985

Gnomad OTH AF: 0.891

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

GnomAD4 genome Data not reliable, filtered out with message: InbreedingCoeff AF: 0.865 AC: 91096 AN: 105334 Hom.: 30212 Cov.: 19 AF XY: 0.867 AC XY: 24310 AN XY: 28044

African (AFR) AF: 0.566 AC: 16466 AN: 29099

American (AMR) AF: 0.937 AC: 9057 AN: 9670

Ashkenazi Jewish (ASJ) AF: 0.986 AC: 2525 AN: 2560

East Asian (EAS) AF: 0.999 AC: 3294 AN: 3297

South Asian (SAS) AF: 0.986 AC: 2196 AN: 2228

European-Finnish (FIN) AF: 0.998 AC: 4892 AN: 4904

Middle Eastern (MID) AF: 0.961 AC: 199 AN: 207

European-Non Finnish (NFE) AF: 0.985 AC: 50542 AN: 51291

Other (OTH) AF: 0.892 AC: 1261 AN: 1413

Alfa AF: 0.923 Hom.: 33635

Bravo AF: 0.852

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.96
CADD	Benign	1.5
DANN	Benign	0.39
PhyloP100		-0.16

Splicing

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

Other links and lift over

dbSNP: rs4829605; hg19: chrX-136264981;