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NM_170707.4(LMNA):c.1040A>G (p.Glu347Gly) AND Charcot-Marie-Tooth disease type 2

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Sep 1, 2021
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:
RCV001295895.4

Allele description

NM_170707.4(LMNA):c.1040A>G (p.Glu347Gly)

Gene:
LMNA:lamin A/C [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1q22
Genomic location:
Preferred name:
NM_170707.4(LMNA):c.1040A>G (p.Glu347Gly)
HGVS:
  • NC_000001.11:g.156136004A>G
  • NG_008692.2:g.58432A>G
  • NM_001257374.3:c.704A>G
  • NM_001282624.2:c.797A>G
  • NM_001282625.2:c.1040A>G
  • NM_001282626.2:c.1040A>G
  • NM_005572.4:c.1040A>G
  • NM_170707.4:c.1040A>GMANE SELECT
  • NM_170708.4:c.1040A>G
  • NP_001244303.1:p.Glu235Gly
  • NP_001269553.1:p.Glu266Gly
  • NP_001269554.1:p.Glu347Gly
  • NP_001269555.1:p.Glu347Gly
  • NP_005563.1:p.Glu347Gly
  • NP_733821.1:p.Glu347Gly
  • NP_733822.1:p.Glu347Gly
  • LRG_254:g.58432A>G
  • NC_000001.10:g.156105795A>G
Protein change:
E235G
Links:
dbSNP: rs1449688220
NCBI 1000 Genomes Browser:
rs1449688220
Molecular consequence:
  • NM_001257374.3:c.704A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001282624.2:c.797A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001282625.2:c.1040A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001282626.2:c.1040A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_005572.4:c.1040A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_170707.4:c.1040A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_170708.4:c.1040A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Charcot-Marie-Tooth disease type 2
Synonyms:
Charcot-Marie-Tooth, Type 2
Identifiers:
MONDO: MONDO:0018993; MedGen: C0270914

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001484846Invitae
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Uncertain significance
(Sep 1, 2021) 		germlineclinical testing

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

Help

Summary from all submissions

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

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group, Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From Invitae, SCV001484846.2

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

Last Updated: Nov 29, 2022