Variant 7-27543002-T-TG details in Genebe, Genetics Data Aggregator

Variant summary

Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2

The NM_152740.4(HIBADH):c.582dupC(p.Asn195fs) variant causes a frameshift change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. Variant has been reported in ClinVar as Uncertain significance (★). Variant results in nonsense mediated mRNA decay.

Frequency

Genomes: not found (cov: 31)

Consequence

HIBADH
NM_152740.4 frameshift

Scores

Not classified

Clinical Significance

Uncertain significance criteria provided, single submitter U:1

Conservation

PhyloP100: 1.54

Variant links:

Genes affected

HIBADH (HGNC:4907): (3-hydroxyisobutyrate dehydrogenase) This gene encodes a mitochondrial 3-hydroxyisobutyrate dehydrogenase enzyme. The encoded protein plays a critical role in the catabolism of L-valine by catalyzing the oxidation of 3-hydroxyisobutyrate to methylmalonate semialdehyde. [provided by RefSeq, Nov 2011]

HIBADH links:

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ACMG classification

Classification made for transcript

Verdict is Uncertain_significance. Variant got 2 ACMG points.

PM2

Very rare variant in population databases, with high coverage;

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	Protein	UniProt
HIBADH	NM_152740.4 linkuse as main transcript	c.582dupC	p.Asn195fs	frameshift_variant	5/8	ENST00000265395.7	NP_689953.1	P31937A0A024RA75
HIBADH	XM_047419834.1 linkuse as main transcript	c.279dupC	p.Asn94fs	frameshift_variant	4/7		XP_047275790.1
HIBADH	XM_047419835.1 linkuse as main transcript	c.279dupC	p.Asn94fs	frameshift_variant	4/7		XP_047275791.1

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Protein	UniProt
HIBADH	ENST00000265395.7 linkuse as main transcript	c.582dupC	p.Asn195fs	frameshift_variant	5/8	1	NM_152740.4	ENSP00000265395.2	P31937
HIBADH	ENST00000425715.1 linkuse as main transcript	c.408dupC	p.Asn137fs	frameshift_variant	4/6	2		ENSP00000390205.1	H7BZL2
HIBADH	ENST00000428288.2 linkuse as main transcript	n.*301dupC		non_coding_transcript_exon_variant	4/7	3		ENSP00000393365.1	F8WET2
HIBADH	ENST00000428288.2 linkuse as main transcript	n.*301dupC		3_prime_UTR_variant	4/7	3		ENSP00000393365.1	F8WET2

Frequencies

GnomAD3 genomes

Cov.:

GnomAD4 exome

Cov.:

GnomAD4 genome

Cov.:

ClinVar

Significance: Uncertain significance

Submissions summary: Uncertain:1

Revision: criteria provided, single submitter

LINK: link

Submissions by phenotype

not provided

Uncertain:1

Uncertain significance, criteria provided, single submitter

clinical testing

CeGaT Center for Human Genetics Tuebingen

Nov 01, 2018

- -

Computational scores

Source: dbNSFP v4.3

Name

Calibrated prediction

Score

Prediction

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

LitVar

Below is the list of publications found by LitVar. It may be empty.

Variant summary

Frequency

Consequence

Scores

Clinical Significance

Conservation

ACMG classification

Transcripts

RefSeq

Ensembl

Frequencies

ClinVar

Submissions by phenotype

Computational scores

Splicing

Publications

LitVar

Other links and lift over