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NM_002180.3(IGHMBP2):c.1523C>T (p.Ser508Leu) AND Autosomal recessive distal spinal muscular atrophy 1

Germline classification:
Pathogenic (1 submission)
Last evaluated:
May 4, 2022
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:
RCV002248737.1

Allele description [Variation Report for NM_002180.3(IGHMBP2):c.1523C>T (p.Ser508Leu)]

NM_002180.3(IGHMBP2):c.1523C>T (p.Ser508Leu)

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.1523C>T (p.Ser508Leu)
HGVS:
  • NC_000011.10:g.68933899C>T
  • NG_007976.1:g.35049C>T
  • NM_002180.3:c.1523C>TMANE SELECT
  • NP_002171.2:p.Ser508Leu
  • NP_002171.2:p.Ser508Leu
  • LRG_250t1:c.1523C>T
  • LRG_250:g.35049C>T
  • LRG_250p1:p.Ser508Leu
  • NC_000011.9:g.68701367C>T
  • NM_002180.2:c.1523C>T
Protein change:
S508L
Links:
dbSNP: rs754465226
NCBI 1000 Genomes Browser:
rs754465226
Molecular consequence:
  • NM_002180.3:c.1523C>T - missense variant - [Sequence Ontology: SO:0001583]

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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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002516574Mendelics
criteria provided, single submitter

(Mendelics Assertion Criteria 2019)		Pathogenic
(May 4, 2022) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Mendelics, SCV002516574.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024