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NM_170707.4(LMNA):c.1851C>T (p.Ala617_Ser618=) AND Charcot-Marie-Tooth disease

Clinical significance:Likely benign

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

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Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001173409.2

Allele description [Variation Report for NM_170707.4(LMNA):c.1851C>T (p.Ala617_Ser618=)]

NM_170707.4(LMNA):c.1851C>T (p.Ala617_Ser618=)

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.1851C>T (p.Ala617_Ser618=)
HGVS:
  • NC_000001.11:g.156138640C>T
  • NG_008692.2:g.61068C>T
  • NM_001257374.3:c.1515C>T
  • NM_001282626.2:c.1818+33C>T
  • NM_001406983.1:c.1851C>T
  • NM_001406985.1:c.1851C>T
  • NM_001406986.1:c.1608C>T
  • NM_001406987.1:c.1608C>T
  • NM_001406988.1:c.1554C>T
  • NM_001406989.1:c.1515C>T
  • NM_001406990.1:c.1293C>T
  • NM_001406991.1:c.1851C>T
  • NM_001406993.1:c.1293C>T
  • NM_001406994.1:c.1227C>T
  • NM_001406995.1:c.1293C>T
  • NM_001406996.1:c.1293C>T
  • NM_001406997.1:c.1293C>T
  • NM_001406999.1:c.1227C>T
  • NM_001407000.1:c.1227C>T
  • NM_001407001.1:c.1227C>T
  • NM_170707.4:c.1851C>TMANE SELECT
  • NM_170708.4:c.1761C>T
  • NP_001244303.1:p.Ala505_Ser506=
  • NP_001393912.1:p.Ala617=
  • NP_001393914.1:p.Ala617=
  • NP_001393915.1:p.Ala536=
  • NP_001393916.1:p.Ala536=
  • NP_001393917.1:p.Ala518=
  • NP_001393918.1:p.Ala505=
  • NP_001393919.1:p.Ala431=
  • NP_001393920.1:p.Ala617=
  • NP_001393922.1:p.Ala431=
  • NP_001393923.1:p.Ala409=
  • NP_001393924.1:p.Ala431=
  • NP_001393925.1:p.Ala431=
  • NP_001393926.1:p.Ala431=
  • NP_001393928.1:p.Ala409=
  • NP_001393929.1:p.Ala409=
  • NP_001393930.1:p.Ala409=
  • NP_733821.1:p.Ala617=
  • NP_733821.1:p.Ala617_Ser618=
  • NP_733822.1:p.Ala587=
  • NP_733822.1:p.Ala587_Ser588=
  • LRG_254t1:c.*876C>T
  • LRG_254t2:c.1851C>T
  • LRG_254t3:c.1761C>T
  • LRG_254:g.61068C>T
  • LRG_254p2:p.Ala617=
  • LRG_254p3:p.Ala587=
  • NC_000001.10:g.156108431C>T
  • NM_005572.3:c.*876C>T
  • NM_170707.2:c.1851C>T
  • NM_170707.3:c.1851C>T
  • NM_170708.2:c.1761C>T
  • c.1851C>T
  • p.Ala617Ala
Links:
dbSNP: rs143189394
NCBI 1000 Genomes Browser:
rs143189394
Molecular consequence:
  • NM_001282626.2:c.1818+33C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001257374.3:c.1515C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001406983.1:c.1851C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001406985.1:c.1851C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001406986.1:c.1608C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001406987.1:c.1608C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001406988.1:c.1554C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001406989.1:c.1515C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001406990.1:c.1293C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001406991.1:c.1851C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001406993.1:c.1293C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001406994.1:c.1227C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001406995.1:c.1293C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001406996.1:c.1293C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001406997.1:c.1293C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001406999.1:c.1227C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407000.1:c.1227C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407001.1:c.1227C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_170707.4:c.1851C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_170708.4:c.1761C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:
Charcot-Marie-Tooth disease
Synonyms:
Charcot-Marie-Tooth Neuropathy
Identifiers:
MONDO: MONDO:0015626; MedGen: C0007959; OMIM: PS118220

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001336497Molecular Genetics Laboratory,London Health Sciences Centrecriteria provided, single submitter
Likely benigngermlineclinical testing

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

Summary from all submissions

Help
EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot 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 Genetics Laboratory,London Health Sciences Centre, SCV001336497.1

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

Last Updated: Jan 21, 2023