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NM_001164508.2(NEB):c.24557G>A (p.Arg8186His) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Aug 3, 2023
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:
RCV003330959.1

Allele description [Variation Report for NM_001164508.2(NEB):c.24557G>A (p.Arg8186His)]

NM_001164508.2(NEB):c.24557G>A (p.Arg8186His)

Genes:
NEB:nebulin [Gene - OMIM - HGNC]
RIF1:replication timing regulatory factor 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2q23.3
Genomic location:
Preferred name:
NM_001164508.2(NEB):c.24557G>A (p.Arg8186His)
HGVS:
  • NC_000002.12:g.151494183C>T
  • NG_009382.2:g.245305G>A
  • NM_001164507.2:c.24557G>A
  • NM_001164508.2:c.24557G>AMANE SELECT
  • NM_001271208.2:c.24662G>A
  • NM_004543.5:c.18989G>A
  • NP_001157979.2:p.Arg8186His
  • NP_001157980.2:p.Arg8186His
  • NP_001258137.2:p.Arg8221His
  • NP_004534.3:p.Arg6330His
  • LRG_202t1:c.24662G>A
  • LRG_202:g.245305G>A
  • NC_000002.11:g.152350697C>T
  • NM_001271208.1:c.24662G>A
  • NM_004543.4:c.18989G>A
Protein change:
R6330H
Links:
dbSNP: rs759962661
NCBI 1000 Genomes Browser:
rs759962661
Molecular consequence:
  • NM_001164507.2:c.24557G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001164508.2:c.24557G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001271208.2:c.24662G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004543.5:c.18989G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV004039266Women's Health and Genetics/Laboratory Corporation of America, LabCorp
criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)
Uncertain significance
(Aug 3, 2023)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV004039266.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

Variant summary: NEB c.24662G>A (p.Arg8221His) results in a non-conservative amino acid change in the encoded protein sequence. Three of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 2.1e-05 in 239754 control chromosomes (gnomAD). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.24662G>A in individuals affected with Nemaline Myopathy 2 and no experimental evidence demonstrating its impact on protein function have been reported. Five ClinVar submitters have assessed the variant since 2014: four classified the variant as uncertain significance and one as likely benign. Based on the evidence outlined above, the variant was classified as uncertain significance.

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

Last Updated: Sep 29, 2024