NM_001182.5(ALDH7A1):c.1597del (p.Ala533fs) AND Abnormality of the nervous system

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Jul 10, 2021
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:: RCV001814003.2

Allele description [Variation Report for NM_001182.5(ALDH7A1):c.1597del (p.Ala533fs)]

NM_001182.5(ALDH7A1):c.1597del (p.Ala533fs)

Gene:

ALDH7A1:aldehyde dehydrogenase 7 family member A1 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

5q23.2

Genomic location:

Preferred name:

NM_001182.5(ALDH7A1):c.1597del (p.Ala533fs)

HGVS:

NC_000005.10:g.126544989del
NG_008600.2:g.55403del
NM_001182.5:c.1597delMANE SELECT
NM_001201377.2:c.1513del
NM_001202404.2:c.1405del
NP_001173.2:p.Ala533fs
NP_001188306.1:p.Ala505fs
NP_001189333.2:p.Ala469fs
NC_000005.9:g.125880680del
NC_000005.9:g.125880681del
NM_001182.4:c.1597del
NM_001182.5:c.1597delGMANE SELECT

Protein change:

A469fs

Links:

OMIM: 107323.0006; dbSNP: rs387906574

NCBI 1000 Genomes Browser:

rs387906574

Molecular consequence:

NM_001182.5:c.1597del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001201377.2:c.1513del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001202404.2:c.1405del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: Abnormality of the nervous system
Synonyms:: Congenital nervous system disorder
Identifiers:: MONDO: MONDO:0002320; MedGen: C0497552; Human Phenotype Ontology: HP:0000707

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001755173	Kariminejad - Najmabadi Pathology & Genetics Center	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Jul 10, 2021)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001755173

Kariminejad - Najmabadi Pathology & Genetics Center

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Jul 10, 2021)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Kariminejad - Najmabadi Pathology & Genetics Center, SCV001755173.1

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

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

Last Updated: Apr 15, 2024

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