NM_003315.4(DNAJC7):c.170T>C (p.Met57Thr) AND Amyotrophic lateral sclerosis

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Sep 9, 2020
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:: RCV001260198.3

Allele description [Variation Report for NM_003315.4(DNAJC7):c.170T>C (p.Met57Thr)]

NM_003315.4(DNAJC7):c.170T>C (p.Met57Thr)

Gene:

DNAJC7:DnaJ heat shock protein family (Hsp40) member C7 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17q21.2

Genomic location:

Preferred name:

NM_003315.4(DNAJC7):c.170T>C (p.Met57Thr)

HGVS:

NC_000017.11:g.41997236A>G
NM_001144766.3:c.2T>C
NM_003315.4:c.170T>CMANE SELECT
NP_001138238.1:p.Met1Thr
NP_003306.3:p.Met57Thr
NC_000017.10:g.40149254A>G
NM_001144766.2:c.2T>C
NR_029431.2:n.104T>C

Protein change:

M1T

Links:

dbSNP: rs371236469

NCBI 1000 Genomes Browser:

rs371236469

Molecular consequence:

NM_001144766.3:c.2T>C - initiator_codon_variant - [Sequence Ontology: SO:0001582]
NM_001144766.3:c.2T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_003315.4:c.170T>C - missense variant - [Sequence Ontology: SO:0001583]
NR_029431.2:n.104T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:: Amyotrophic lateral sclerosis (ALS)
Synonyms:: Lou Gehrig disease; Charcot disease
Identifiers:: MONDO: MONDO:0004976; MedGen: C0002736; Human Phenotype Ontology: HP:0007354

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001437167	UM ALS/MND Lab, University Of Malta	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Sep 9, 2020)	unknown	case-control	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001437167

UM ALS/MND Lab, University Of Malta

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Sep 9, 2020)

unknown

case-control

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
Maltese	unknown	yes	1	not provided	not provided	not provided	not provided	case-control

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 UM ALS/MND Lab, University Of Malta, SCV001437167.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	Maltese	1	not provided	not provided	case-control	PubMed (1)

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

Last Updated: May 7, 2024

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