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NM_002180.3(IGHMBP2):c.1523C>T (p.Ser508Leu) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 5, 2017
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:
RCV000498809.3

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]
Observations:
2

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000590850Molecular Diagnostics Lab, Nemours Children's Health, Delaware
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Jan 5, 2017) 		inherited, unknownclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownno1not providednot provided1not providedclinical testing
not providedinheritedyes1not providednot provided1not providedclinical testing

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 Molecular Diagnostics Lab, Nemours Children's Health, Delaware, SCV000590850.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)
2not provided1not providednot providedclinical testing PubMed (1)

Description

abnormal nerve conduction velocity consistent with neuropathy

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1inheritedyes1not providednot provided1not providednot providednot provided
2unknownno1not providednot provided1not providednot providednot provided

Last Updated: Sep 29, 2024