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NM_170707.4(LMNA):c.771_772delinsTT (p.Glu257_Gln258delinsAspTer) AND Charcot-Marie-Tooth disease type 2

Germline classification:
Pathogenic (1 submission)
Last evaluated:
May 19, 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:
RCV003744334.2

Allele description [Variation Report for NM_170707.4(LMNA):c.771_772delinsTT (p.Glu257_Gln258delinsAspTer)]

NM_170707.4(LMNA):c.771_772delinsTT (p.Glu257_Gln258delinsAspTer)

Gene:
LMNA:lamin A/C [Gene - OMIM - HGNC]
Variant type:
Indel
Cytogenetic location:
1q22
Genomic location:
Preferred name:
NM_170707.4(LMNA):c.771_772delinsTT (p.Glu257_Gln258delinsAspTer)
HGVS:
  • NC_000001.11:g.156134936_156134937delinsTT
  • NG_008692.2:g.57364_57365delinsTT
  • NM_001257374.3:c.435_436delinsTT
  • NM_001282624.2:c.528_529delinsTT
  • NM_001282625.2:c.771_772delinsTT
  • NM_001282626.2:c.771_772delinsTT
  • NM_001406983.1:c.771_772delinsTT
  • NM_001406984.1:c.771_772delinsTT
  • NM_001406985.1:c.771_772delinsTT
  • NM_001406986.1:c.528_529delinsTT
  • NM_001406987.1:c.528_529delinsTT
  • NM_001406988.1:c.474_475delinsTT
  • NM_001406989.1:c.435_436delinsTT
  • NM_001406990.1:c.213_214delinsTT
  • NM_001406991.1:c.771_772delinsTT
  • NM_001406992.1:c.771_772delinsTT
  • NM_001406993.1:c.213_214delinsTT
  • NM_001406994.1:c.107_108delinsTT
  • NM_001406995.1:c.213_214delinsTT
  • NM_001406996.1:c.213_214delinsTT
  • NM_001406997.1:c.213_214delinsTT
  • NM_001406998.1:c.435_436delinsTT
  • NM_001406999.1:c.107_108delinsTT
  • NM_001407000.1:c.107_108delinsTT
  • NM_001407001.1:c.107_108delinsTT
  • NM_001407002.1:c.213_214delinsTT
  • NM_001407003.1:c.213_214delinsTT
  • NM_005572.4:c.771_772delinsTT
  • NM_170707.4:c.771_772delinsTTMANE SELECT
  • NM_170708.4:c.771_772delinsTT
  • NP_001244303.1:p.Glu145_Gln146delinsAspTer
  • NP_001269553.1:p.Glu176_Gln177delinsAspTer
  • NP_001269554.1:p.Glu257_Gln258delinsAspTer
  • NP_001269555.1:p.Glu257_Gln258delinsAspTer
  • NP_001393912.1:p.Glu257_Gln258delinsAspTer
  • NP_001393913.1:p.Glu257_Gln258delinsAspTer
  • NP_001393914.1:p.Glu257_Gln258delinsAspTer
  • NP_001393915.1:p.Glu176_Gln177delinsAspTer
  • NP_001393916.1:p.Glu176_Gln177delinsAspTer
  • NP_001393917.1:p.Glu158_Gln159delinsAspTer
  • NP_001393918.1:p.Glu145_Gln146delinsAspTer
  • NP_001393919.1:p.Glu71_Gln72delinsAspTer
  • NP_001393920.1:p.Glu257_Gln258delinsAspTer
  • NP_001393921.1:p.Glu257_Gln258delinsAspTer
  • NP_001393922.1:p.Glu71_Gln72delinsAspTer
  • NP_001393923.1:p.Ser36Ile
  • NP_001393924.1:p.Glu71_Gln72delinsAspTer
  • NP_001393925.1:p.Glu71_Gln72delinsAspTer
  • NP_001393926.1:p.Glu71_Gln72delinsAspTer
  • NP_001393927.1:p.Glu145_Gln146delinsAspTer
  • NP_001393928.1:p.Ser36Ile
  • NP_001393929.1:p.Ser36Ile
  • NP_001393930.1:p.Ser36Ile
  • NP_001393931.1:p.Glu71_Gln72delinsAspTer
  • NP_001393932.1:p.Glu71_Gln72delinsAspTer
  • NP_005563.1:p.Glu257_Gln258delinsAspTer
  • NP_005563.1:p.Glu257_Gln258delinsAspTer
  • NP_733821.1:p.Glu257_Gln258delinsAspTer
  • NP_733821.1:p.Glu257_Gln258delinsAspTer
  • NP_733822.1:p.Glu257_Gln258delinsAspTer
  • NP_733822.1:p.Glu257_Gln258delinsAspTer
  • LRG_254t1:c.771_772delGCinsTT
  • LRG_254t2:c.771_772delGCinsTT
  • LRG_254t3:c.771_772delGCinsTT
  • LRG_254:g.57364_57365delinsTT
  • LRG_254p1:p.Glu257_Gln258delinsAspTer
  • LRG_254p2:p.Glu257_Gln258delinsAspTer
  • LRG_254p3:p.Glu257_Gln258delinsAspTer
  • NC_000001.10:g.156104727_156104728delinsTT
  • NM_005572.3:c.771_772delGCinsTT
  • NM_170707.2:c.771_772delGCinsTT
  • NM_170708.2:c.771_772delGCinsTT
  • NR_047544.1:n.1412_1413delGCinsTT
  • NR_047545.1:n.659_660delGCinsTT
Protein change:
S36I
Molecular consequence:
  • NM_001406994.1:c.107_108delinsTT - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406999.1:c.107_108delinsTT - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407000.1:c.107_108delinsTT - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407001.1:c.107_108delinsTT - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001257374.3:c.435_436delinsTT - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001282624.2:c.528_529delinsTT - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001282625.2:c.771_772delinsTT - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001282626.2:c.771_772delinsTT - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001406983.1:c.771_772delinsTT - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001406984.1:c.771_772delinsTT - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001406985.1:c.771_772delinsTT - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001406986.1:c.528_529delinsTT - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001406987.1:c.528_529delinsTT - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001406988.1:c.474_475delinsTT - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001406989.1:c.435_436delinsTT - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001406990.1:c.213_214delinsTT - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001406991.1:c.771_772delinsTT - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001406992.1:c.771_772delinsTT - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001406993.1:c.213_214delinsTT - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001406995.1:c.213_214delinsTT - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001406996.1:c.213_214delinsTT - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001406997.1:c.213_214delinsTT - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001406998.1:c.435_436delinsTT - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407002.1:c.213_214delinsTT - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407003.1:c.213_214delinsTT - nonsense - [Sequence Ontology: SO:0001587]
  • NM_005572.4:c.771_772delinsTT - nonsense - [Sequence Ontology: SO:0001587]
  • NM_170707.4:c.771_772delinsTT - nonsense - [Sequence Ontology: SO:0001587]
  • NM_170708.4:c.771_772delinsTT - nonsense - [Sequence Ontology: SO:0001587]

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
SCV004435775Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Pathogenic
(May 19, 2023) 		germlineclinical testing

PubMed (3)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

Citations

PubMed

Lamin A/C mutation analysis in a cohort of 324 unrelated patients with idiopathic or familial dilated cardiomyopathy.

Parks SB, Kushner JD, Nauman D, Burgess D, Ludwigsen S, Peterson A, Li D, Jakobs P, Litt M, Porter CB, Rahko PS, Hershberger RE.

Am Heart J. 2008 Jul;156(1):161-9. doi: 10.1016/j.ahj.2008.01.026. Epub 2008 Mar 12.

PubMed [citation]
PMID:
18585512
PMCID:
PMC2527054

Long-term outcome and risk stratification in dilated cardiolaminopathies.

Pasotti M, Klersy C, Pilotto A, Marziliano N, Rapezzi C, Serio A, Mannarino S, Gambarin F, Favalli V, Grasso M, Agozzino M, Campana C, Gavazzi A, Febo O, Marini M, Landolina M, Mortara A, Piccolo G, Viganò M, Tavazzi L, Arbustini E.

J Am Coll Cardiol. 2008 Oct 7;52(15):1250-60. doi: 10.1016/j.jacc.2008.06.044.

PubMed [citation]
PMID:
18926329
See all PubMed Citations (3)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV004435775.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)

Description

Information on the frequency of this variant in the gnomAD database is not available, as this variant may be reported differently in the database. For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with LMNA-related conditions. This sequence change creates a premature translational stop signal (p.Glu257_Gln258delinsAsp*) in the LMNA gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in LMNA are known to be pathogenic (PMID: 18585512, 18926329).

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

Last Updated: Sep 29, 2024