NM_000382.3(ALDH3A2):c.979del (p.Lys326_Val327insTer) AND not provided

This record was updated by the submitter. Please see the current version.

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Mar 4, 2023
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV001385894.3

Allele description

NM_000382.3(ALDH3A2):c.979del (p.Lys326_Val327insTer)

Gene:

ALDH3A2:aldehyde dehydrogenase 3 family member A2 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

17p11.2

Genomic location:

Preferred name:

NM_000382.3(ALDH3A2):c.979del (p.Lys326_Val327insTer)

HGVS:

NC_000017.11:g.19663371del
NG_007095.2:g.19621del
NM_000382.3:c.979delMANE SELECT
NM_001031806.2:c.979del
NM_001369136.1:c.979del
NM_001369137.2:c.979del
NM_001369138.2:c.979del
NM_001369139.1:c.979del
NM_001369146.2:c.979del
NM_001369148.2:c.400del
NP_000373.1:p.Lys326_Val327insTer
NP_001026976.1:p.Lys326_Val327insTer
NP_001356065.1:p.Lys326_Val327insTer
NP_001356066.1:p.Lys326_Val327insTer
NP_001356067.1:p.Lys326_Val327insTer
NP_001356068.1:p.Lys326_Val327insTer
NP_001356075.1:p.Lys326_Val327insTer
NP_001356077.1:p.Lys133_Val134insTer
NC_000017.10:g.19566683del
NC_000017.10:g.19566684del
NM_000382.2:c.979delG

Links:

dbSNP: rs779956047

NCBI 1000 Genomes Browser:

rs779956047

Molecular consequence:

NM_000382.3:c.979del - nonsense - [Sequence Ontology: SO:0001587]
NM_001031806.2:c.979del - nonsense - [Sequence Ontology: SO:0001587]
NM_001369136.1:c.979del - nonsense - [Sequence Ontology: SO:0001587]
NM_001369137.2:c.979del - nonsense - [Sequence Ontology: SO:0001587]
NM_001369138.2:c.979del - nonsense - [Sequence Ontology: SO:0001587]
NM_001369139.1:c.979del - nonsense - [Sequence Ontology: SO:0001587]
NM_001369146.2:c.979del - nonsense - [Sequence Ontology: SO:0001587]
NM_001369148.2:c.400del - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001585910	Invitae	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Pathogenic (Mar 4, 2023)	germline	clinical testing	PubMed (3) [See all records that cite these PMIDs] 10577908, 10854114, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001585910

Invitae

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Pathogenic
(Mar 4, 2023)

germline

clinical testing

PubMed (3)
[See all records that cite these PMIDs]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

The molecular basis of Sjögren-Larsson syndrome: mutation analysis of the fatty aldehyde dehydrogenase gene.

Rizzo WB, Carney G, Lin Z.

Am J Hum Genet. 1999 Dec;65(6):1547-60.

PubMed [citation]

PMID:: 10577908
PMCID:: PMC1288365

RNA-based mutation screening in German families with Sjögren-Larsson syndrome.

Kraus C, Braun-Quentin C, Ballhausen WG, Pfeiffer RA.

Eur J Hum Genet. 2000 Apr;8(4):299-306.

PubMed [citation]

PMID:: 10854114

See all PubMed Citations (3)

Details of each submission

From Invitae, SCV001585910.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (3)

Description

ClinVar contains an entry for this variant (Variation ID: 557168). This variant has not been reported in the literature in individuals affected with ALDH3A2-related conditions. This variant is present in population databases (rs779956047, gnomAD 0.01%). This sequence change creates a premature translational stop signal (p.Val327*) in the ALDH3A2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ALDH3A2 are known to be pathogenic (PMID: 10577908, 10854114). For these reasons, this variant has been classified as Pathogenic.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Feb 20, 2024

ClinVar

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