Genetic Variant ENSG00000228427:n.267+2451T>G (chrX-71195458-A-C) – ACMG Classification: Likely_benign (-2 pts)

Variant summary

Our verdict is Likely benign. The variant received -2 ACMG points: 2P and 4B. PM2BP4_Strong

The ENST00000450860.1(ENSG00000228427):n.267+2451T>G variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000185 in 107,871 control chromosomes in the GnomAD database, with no homozygous occurrence. There are 1 hemizygotes in GnomAD. 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 0.000019 ( 0 hom., 1 hem., cov: 21)

Consequence

ENSG00000228427
ENST00000450860.1 intron

Scores

Clinical Significance

Not reported in ClinVar

Conservation

PhyloP100: 0.234

Publications

1 publications found

Variant links:

Genes affected

ENSG00000228427 (HGNC:):

ENSG00000228427 links:

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ACMG classification

Classification was made for transcript

Our verdict: Likely_benign. The variant received -2 ACMG points.

PM2

Very rare variant in population databases, with high coverage;

BP4

Computational evidence support a benign effect (BayesDel_noAF=-0.97).

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt
LOC107985688	XR_001755878.2 link	n.285+2451T>G		intron_variant	Intron 1 of 1

Ensembl

Gene	Transcript	HGVSc	Effect	Exon rank	TSL
ENSG00000228427	ENST00000450860.1 link	n.267+2451T>G	intron_variant	Intron 1 of 1	3
ENSG00000228427	ENST00000652147.3 link	n.357+2451T>G	intron_variant	Intron 1 of 1
ENSG00000228427	ENST00000664514.4 link	n.599+2451T>G	intron_variant	Intron 1 of 1

Frequencies

GnomAD3 genomes

AF:

0.0000185

AC:

AN:

107871

Hom.:

Cov.:

show subpopulations

Gnomad AFR

AF:

0.0000678

Gnomad AMI

AF:

0.00

Gnomad AMR

AF:

0.00

Gnomad ASJ

AF:

0.00

Gnomad EAS

AF:

0.00

Gnomad SAS

AF:

0.00

Gnomad FIN

AF:

0.00

Gnomad MID

AF:

0.00

Gnomad NFE

AF:

0.00

Gnomad OTH

AF:

0.00

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

GnomAD4 genome

AF:

0.0000185

AC:

AN:

107871

Hom.:

Cov.:

AF XY:

0.0000330

AC XY:

AN XY:

30323

show subpopulations

African (AFR)

AF:

0.0000678

AC:

AN:

29486

American (AMR)

AF:

0.00

AC:

AN:

10122

Ashkenazi Jewish (ASJ)

AF:

0.00

AC:

AN:

2607

East Asian (EAS)

AF:

0.00

AC:

AN:

3368

South Asian (SAS)

AF:

0.00

AC:

AN:

2424

European-Finnish (FIN)

AF:

0.00

AC:

AN:

5407

Middle Eastern (MID)

AF:

0.00

AC:

AN:

229

European-Non Finnish (NFE)

AF:

0.00

AC:

AN:

52120

Other (OTH)

AF:

0.00

AC:

AN:

1454

Allele Balance Distribution

Red line indicates average allele balance

Average allele balance: 0.525

Heterozygous variant carriers

0.00

0.20

0.40

0.60

0.80

0.95

Allele balance

Alfa

AF:

0.00

Hom.:

914

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name

Calibrated prediction

Score

Prediction

BayesDel_noAF

Benign

-0.97

CADD

Benign

0.48

(source)

DANN

Benign

0.40

PhyloP100

0.23

Splicing

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

ClinVar

Computational scores

Splicing

Publications

Other links and lift over