NM_002180.3(IGHMBP2):c.1418+1G>C AND Autosomal recessive distal spinal muscular atrophy 1

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Aug 18, 2016
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:: RCV000677267.4

Allele description [Variation Report for NM_002180.3(IGHMBP2):c.1418+1G>C]

NM_002180.3(IGHMBP2):c.1418+1G>C

Gene:

IGHMBP2:immunoglobulin mu DNA binding protein 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11q13.3

Genomic location:

Preferred name:

NM_002180.3(IGHMBP2):c.1418+1G>C

HGVS:

NC_000011.10:g.68933482G>C
NG_007976.1:g.34632G>C
NM_002180.3:c.1418+1G>CMANE SELECT
LRG_250t1:c.1418+1G>C
LRG_250:g.34632G>C
NC_000011.9:g.68700950G>C
NM_002180.2:c.1418+1G>C

Links:

dbSNP: rs1160978570

NCBI 1000 Genomes Browser:

rs1160978570

Molecular consequence:

NM_002180.3:c.1418+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]

Functional consequence:

Variation affecting splicing function of RNA [Variation Ontology: 0397]

Condition(s)

Name:: Autosomal recessive distal spinal muscular atrophy 1
Synonyms:: HMN VI; SPINAL MUSCULAR ATROPHY, DIAPHRAGMATIC; Spinal muscular atrophy with respiratory distress 1; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0011436; MedGen: C1858517; Orphanet: 98920; OMIM: 604320

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000680077	Service de Pédiatrie - Neurologie et infectiologie - Toulouse, CHU de Toulouse - Hôpital des Enfants	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Aug 18, 2016)	unknown	case-control

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000680077

Service de Pédiatrie - Neurologie et infectiologie - Toulouse, CHU de Toulouse - Hôpital des Enfants

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Aug 18, 2016)

unknown

case-control

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	unknown	yes	1	not provided	not provided	not provided	not provided	case-control

Details of each submission

From Service de Pédiatrie - Neurologie et infectiologie - Toulouse, CHU de Toulouse - Hôpital des Enfants, SCV000680077.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1		1	not provided	not provided	case-control	not provided

Description

It is never published in any databases. But it is likely pathogenic because located on a splice site, causing a premature codon stop in the middle of the main functional domain of the protein (DNA helicase, region 2A where ATP binding sites are concentrated).

#	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: Jun 23, 2024

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