rs371981

Variant names:

• chr21-13968866-C-G
• rs371981
• ENST00000344693.6:n.736+10836G>C

Your query was ambiguous. Multiple possible variants found:

• chr21-13968866-C-G
• chr21-13968866-C-T

Variant summary

Our verdict is Benign. The variant received -12 ACMG points: 0P and 12B. BP4_Strong BA1

The ENST00000344693.6(ENSG00000291280):​n.736+10836G>C variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.116 in 152,200 control chromosomes in the GnomAD database, including 1,126 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 0.12 (1126 hom., cov: 32)
• Consequence: ENSG00000291280 ENST00000344693.6 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.608
• Publications: 1 publications found

Genes affected

ENSG00000291280 (HGNC:):

ANKRD20A11P (HGNC:42024): (ankyrin repeat domain 20 family member A11, pseudogene)

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.97).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.221 is higher than 0.05.

Variant Effect in Transcripts

ACMG analysis was done for transcript: ENST00000344693.6. You can select a different transcript below to see updated ACMG assignments.

RefSeq Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	ANKRD20A11P	NR_027270.1		n.743+10836G>C		intron	N/A

Ensembl Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	ENSG00000291280	ENST00000344693.6	TSL:1	n.736+10836G>C		intron	N/A
	ENSG00000291280	ENST00000428576.6	TSL:3	n.647+1107G>C		intron	N/A
	ENSG00000291280	ENST00000429521.5	TSL:3	n.272+1107G>C		intron	N/A

Frequencies

GnomAD3 genomes AF: 0.116 AC: 17659 AN: 152082 Hom.: 1125 Cov.: 32

Gnomad AFR AF: 0.0913

Gnomad AMI AF: 0.159

Gnomad AMR AF: 0.110

Gnomad ASJ AF: 0.0749

Gnomad EAS AF: 0.231

Gnomad SAS AF: 0.115

Gnomad FIN AF: 0.157

Gnomad MID AF: 0.00949

Gnomad NFE AF: 0.120

Gnomad OTH AF: 0.117

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

GnomAD4 genome AF: 0.116 AC: 17678 AN: 152200 Hom.: 1126 Cov.: 32 AF XY: 0.118 AC XY: 8810 AN XY: 74404

African (AFR) AF: 0.0913 AC: 3792 AN: 41538

American (AMR) AF: 0.110 AC: 1677 AN: 15292

Ashkenazi Jewish (ASJ) AF: 0.0749 AC: 260 AN: 3470

East Asian (EAS) AF: 0.232 AC: 1199 AN: 5168

South Asian (SAS) AF: 0.115 AC: 554 AN: 4826

European-Finnish (FIN) AF: 0.157 AC: 1668 AN: 10592

Middle Eastern (MID) AF: 0.0136 AC: 4 AN: 294

European-Non Finnish (NFE) AF: 0.119 AC: 8125 AN: 67996

Other (OTH) AF: 0.120 AC: 254 AN: 2114

Alfa AF: 0.0688 Hom.: 111

Bravo AF: 0.113

Asia WGS AF: 0.186 AC: 648 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.97
CADD	Benign	0.55
DANN	Benign	0.40
PhyloP100		-0.61

Splicing

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

MaxEntScan Visualizer can be used to analyze the impact of this mutation on the neighboring sequence.

Other links and lift over

dbSNP: rs371981;

hg19: chr21-15341187;