rs413191

Variant names:

• chr21-10809484-G-A
• rs413191

Your query was ambiguous. Multiple possible variants found:

• chr21-10809484-G-A
• chr21-10809484-G-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 0.0038 (0 hom., cov: 220)
  • Failed GnomAD Quality Control
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: No conservation score assigned
• Publications: 2 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.91).

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: 0.00380 AC: 336 AN: 88332 Hom.: 0 Cov.: 220

Gnomad AFR AF: 0.00528

Gnomad AMI AF: 0.00207

Gnomad AMR AF: 0.00614

Gnomad ASJ AF: 0.000956

Gnomad EAS AF: 0.00408

Gnomad SAS AF: 0.00399

Gnomad FIN AF: 0.00499

Gnomad MID AF: 0.00

Gnomad NFE AF: 0.00229

Gnomad OTH AF: 0.00492

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: AS_VQSR AF: 0.00379 AC: 335 AN: 88394 Hom.: 0 Cov.: 220 AF XY: 0.00433 AC XY: 183 AN XY: 42262

⚠️ The allele balance in gnomAD version 4 Genomes is significantly skewed from the expected value of 0.5.

African (AFR) AF: 0.00527 AC: 133 AN: 25258

American (AMR) AF: 0.00613 AC: 54 AN: 8808

Ashkenazi Jewish (ASJ) AF: 0.000956 AC: 2 AN: 2092

East Asian (EAS) AF: 0.00375 AC: 11 AN: 2936

South Asian (SAS) AF: 0.00399 AC: 11 AN: 2754

European-Finnish (FIN) AF: 0.00499 AC: 27 AN: 5408

Middle Eastern (MID) AF: 0.00 AC: 0 AN: 184

European-Non Finnish (NFE) AF: 0.00229 AC: 90 AN: 39244

Other (OTH) AF: 0.00489 AC: 6 AN: 1228

⚠️ The allele balance in gnomAD version 4 Genomes is significantly skewed from the expected value of 0.5. (p-value = 0), which strongly suggests a high chance of mosaicism in these individuals.

Alfa AF: 0.00 Hom.: 0

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.91
CADD	Benign	8.4
DANN	Benign	0.51

Splicing

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

Other links and lift over

dbSNP: rs413191; hg19: chr21-10702973;