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NM_170707.3(LMNA):c.1130G>A (p.Arg377His) AND Limb-girdle muscular dystrophy, type 1B

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Apr 25, 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:
RCV000015586.27

Allele description

NM_170707.3(LMNA):c.1130G>A (p.Arg377His)

Gene:
LMNA:lamin A/C [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1q22
Genomic location:
Preferred name:
NM_170707.3(LMNA):c.1130G>A (p.Arg377His)
HGVS:
  • NC_000001.11:g.156136094G>A
  • NG_008692.2:g.58522G>A
  • NM_005572.3:c.1130G>A
  • NM_170707.3:c.1130G>A
  • NM_170708.3:c.1130G>A
  • NP_005563.1:p.Arg377His
  • NP_733821.1:p.Arg377His
  • NP_733822.1:p.Arg377His
  • LRG_254t1:c.1130G>A
  • LRG_254:g.58522G>A
  • LRG_254p1:p.Arg377His
  • LRG_254p2:p.Arg377His
  • LRG_254p3:p.Arg377His
  • NC_000001.10:g.156105885G>A
  • NM_170707.2:c.1130G>A
  • P02545:p.Arg377His
Protein change:
R377H; ARG377HIS
Links:
UniProtKB: P02545#VAR_016205; OMIM: 150330.0017; dbSNP: rs61672878
NCBI 1000 Genomes Browser:
rs61672878
Molecular consequence:
  • NM_005572.3:c.1130G>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Limb-girdle muscular dystrophy, type 1B (LGMD1B)
Identifiers:
MedGen: C1834653; Orphanet: 264; OMIM: 159001

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000707955EGL Genetic Diagnostics,Eurofins Clinical Diagnostics
criteria provided, single submitter

(EGL Classification Definitions)		Pathogenic
(Apr 25, 2017) 		germlineclinical testing

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

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot providednot providednot providedclinical testing

Citations

PubMed

Effect of ivacaftor on CFTR forms with missense mutations associated with defects in protein processing or function.

Van Goor F, Yu H, Burton B, Hoffman BJ.

J Cyst Fibros. 2014 Jan;13(1):29-36. doi: 10.1016/j.jcf.2013.06.008. Epub 2013 Jul 23.

PubMed [citation]
PMID:
23891399

Details of each submission

From EGL Genetic Diagnostics,Eurofins Clinical Diagnostics, SCV000707955.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided1not providednot providednot provided

Last Updated: Oct 10, 2018