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NM_002180.3(IGHMBP2):c.861C>G (p.Ser287Arg) AND Autosomal recessive distal spinal muscular atrophy 1

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 28, 2017
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:

Allele description [Variation Report for NM_002180.3(IGHMBP2):c.861C>G (p.Ser287Arg)]

NM_002180.3(IGHMBP2):c.861C>G (p.Ser287Arg)

IGHMBP2:immunoglobulin mu DNA binding protein 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Genomic location:
Preferred name:
NM_002180.3(IGHMBP2):c.861C>G (p.Ser287Arg)
  • NC_000011.10:g.68914972C>G
  • NG_007976.1:g.16122C>G
  • NM_002180.3:c.861C>GMANE SELECT
  • NP_002171.2:p.Ser287Arg
  • NP_002171.2:p.Ser287Arg
  • LRG_250t1:c.861C>G
  • LRG_250:g.16122C>G
  • LRG_250p1:p.Ser287Arg
  • NC_000011.9:g.68682440C>G
  • NM_002180.2:c.861C>G
Protein change:
dbSNP: rs564645287
NCBI 1000 Genomes Browser:
Molecular consequence:
  • NM_002180.3:c.861C>G - missense variant - [Sequence Ontology: SO:0001583]


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

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
SCV001271443Illumina Laboratory Services, Illumina
criteria provided, single submitter

(ICSL Variant Classification Criteria 13 December 2019)
Uncertain significance
(Apr 28, 2017)
germlineclinical testing

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

Citation Link

Summary from all submissions

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



Clinical and molecular characteristics in three families with biallelic mutations in IGHMBP2.

Pedurupillay CR, Amundsen SS, Barøy T, Rasmussen M, Blomhoff A, Stadheim BF, Ørstavik K, Holmgren A, Iqbal T, Frengen E, Misceo D, Strømme P.

Neuromuscul Disord. 2016 Sep;26(9):570-5. doi: 10.1016/j.nmd.2016.06.457. Epub 2016 Jun 22.

PubMed [citation]

Details of each submission

From Illumina Laboratory Services, Illumina, SCV001271443.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)


This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.

OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: May 7, 2024