NM_002180.3(IGHMBP2):c.767C>G (p.Ala256Gly) AND Inborn genetic diseases

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jan 26, 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:: RCV002399756.3

Allele description [Variation Report for NM_002180.3(IGHMBP2):c.767C>G (p.Ala256Gly)]

NM_002180.3(IGHMBP2):c.767C>G (p.Ala256Gly)

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.767C>G (p.Ala256Gly)

Other names:

p.Ala256Gly

HGVS:

NC_000011.10:g.68914878C>G
NG_007976.1:g.16028C>G
NM_002180.3:c.767C>GMANE SELECT
NP_002171.2:p.Ala256Gly
NP_002171.2:p.Ala256Gly
LRG_250t1:c.767C>G
LRG_250:g.16028C>G
LRG_250p1:p.Ala256Gly
NC_000011.9:g.68682346C>G
NM_002180.2:c.767C>G

Protein change:

A256G

Links:

dbSNP: rs148095551

NCBI 1000 Genomes Browser:

rs148095551

Molecular consequence:

NM_002180.3:c.767C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Inborn genetic diseases
Identifiers:: MeSH: D030342; MedGen: C0950123

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002674218	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Jan 26, 2022)	germline	clinical testing	PubMed (3) [See all records that cite these PMIDs] 26257172, 26392352, 28251916 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002674218

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Jan 26, 2022)

germline

clinical testing

PubMed (3)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy.

Gonzaga-Jauregui C, Harel T, Gambin T, Kousi M, Griffin LB, Francescatto L, Ozes B, Karaca E, Jhangiani SN, Bainbridge MN, Lawson KS, Pehlivan D, Okamoto Y, Withers M, Mancias P, Slavotinek A, Reitnauer PJ, Goksungur MT, Shy M, Crawford TO, Koenig M, Willer J, et al.

Cell Rep. 2015 Aug 18;12(7):1169-83. doi: 10.1016/j.celrep.2015.07.023. Epub 2015 Aug 6.

PubMed [citation]

PMID:: 26257172
PMCID:: PMC4545408

Application of targeted multi-gene panel testing for the diagnosis of inherited peripheral neuropathy provides a high diagnostic yield with unexpected phenotype-genotype variability.

Antoniadi T, Buxton C, Dennis G, Forrester N, Smith D, Lunt P, Burton-Jones S.

BMC Med Genet. 2015 Sep 21;16:84. doi: 10.1186/s12881-015-0224-8.

PubMed [citation]

PMID:: 26392352
PMCID:: PMC4578331

See all PubMed Citations (3)

Details of each submission

From Ambry Genetics, SCV002674218.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (3)

Description

The p.A256G variant (also known as c.767C>G), located in coding exon 6 of the IGHMBP2 gene, results from a C to G substitution at nucleotide position 767. The alanine at codon 256 is replaced by glycine, an amino acid with similar properties. This alteration was reported in a patient with congenital hypomyelinating neuropathy who also had two additional alterations in IGHMBP2 although parental samples were unavailable to determine phase (Gonzaga-Jauregui C et al. Cell Rep, 2015 Aug;12:1169-83). This alteration was also reported in the heterozygous state in a young boy with features of distal hereditary motor neuronopathy (Bansagi B et al. Neurology, 2017 Mar;88:1226-1234), and in an individual with a diagnosis of Charcot-Marie-Tooth disease type 2 with limited clinical detail (Antoniadi T et al. BMC Med Genet, 2015 Sep;16:84). This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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

Last Updated: Oct 26, 2024

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