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).

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: 0.00380 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 v4.3

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;