dbSNP rs372421318: ENSG00000266202:c.438+1031delC (chr17-27803091-AG-A) – ACMG Classification: Uncertain_significance (0 pts)

Variant summary

Our verdict is Uncertain significance. The variant received 0 ACMG points: 0P and 0B.

The ENST00000582441.1(ENSG00000266202):c.438+1031delC variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000249 in 84,262 control chromosomes in the GnomAD database, including 1 homozygotes. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

Frequency

Genomes: 𝑓 0.00025 ( 1 hom., cov: 21)

Consequence

ENSG00000266202
ENST00000582441.1 intron

Scores

Not classified

Clinical Significance

Not reported in ClinVar

Conservation

PhyloP100: -1.52

Publications

0 publications found

Variant links:

Genes affected

ENSG00000266202 (HGNC:):

ENSG00000266202 links:

Genome browser will be placed here

ACMG classification

Classification was made for transcript

Our verdict: Uncertain_significance. The variant received 0 ACMG points.

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
ENSG00000266202	ENST00000582441.1 link	c.438+1031delC		intron_variant	Intron 4 of 4	4		ENSP00000462879.1		J3KTA2

Frequencies

GnomAD3 genomes

AF:

0.000249

AC:

AN:

84262

Hom.:

Cov.:

show subpopulations

Gnomad AFR

AF:

0.0000437

Gnomad AMI

AF:

0.00

Gnomad AMR

AF:

0.00136

Gnomad ASJ

AF:

0.00

Gnomad EAS

AF:

0.00

Gnomad SAS

AF:

0.00

Gnomad FIN

AF:

0.000863

Gnomad MID

AF:

0.00

Gnomad NFE

AF:

0.000146

Gnomad OTH

AF:

0.00

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

GnomAD4 genome

AF:

0.000249

AC:

AN:

84262

Hom.:

Cov.:

AF XY:

0.000249

AC XY:

AN XY:

40148

show subpopulations

African (AFR)

AF:

0.0000437

AC:

AN:

22874

American (AMR)

AF:

0.00136

AC:

AN:

6600

Ashkenazi Jewish (ASJ)

AF:

0.00

AC:

AN:

2118

East Asian (EAS)

AF:

0.00

AC:

AN:

2124

South Asian (SAS)

AF:

0.00

AC:

AN:

1722

European-Finnish (FIN)

AF:

0.000863

AC:

AN:

5794

Middle Eastern (MID)

AF:

0.00

AC:

AN:

212

European-Non Finnish (NFE)

AF:

0.000146

AC:

AN:

41002

Other (OTH)

AF:

0.00

AC:

AN:

1188

Allele Balance Distribution

Red line indicates average allele balance

Average allele balance: 0.404

Heterozygous variant carriers

0.00

0.20

0.40

0.60

0.80

0.95

Allele balance

Age Distribution

Genome Het

Variant carriers

<30

30-35

35-40

40-45

45-50

50-55

55-60

60-65

65-70

70-75

75-80

>80

Age

Alfa

AF:

0.00

Hom.:

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name

Calibrated prediction

Score

Prediction

PhyloP100

-1.5

Splicing

Name

Calibrated prediction

Score

Prediction

SpliceAI score (max)

0.0

Details are displayed if max score is > 0.2

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

Publications

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Variant summary

Frequency

Consequence

Scores

Clinical Significance

Conservation

Publications

ACMG classification

Transcripts

RefSeq

Ensembl

Frequencies

Age Distribution

ClinVar

Computational scores

Splicing

Publications

Other links and lift over