NM_170707.4(LMNA):c.1775_1786dup (p.Gly592_Ala595dup) AND Charcot-Marie-Tooth disease type 2

This record was updated by the submitter. Please see the current version.

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jul 7, 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:: RCV001926878.3

Allele description

NM_170707.4(LMNA):c.1775_1786dup (p.Gly592_Ala595dup)

Gene:

LMNA:lamin A/C [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

1q22

Genomic location:

Preferred name:

NM_170707.4(LMNA):c.1775_1786dup (p.Gly592_Ala595dup)

HGVS:

NC_000001.11:g.156138564_156138575dup
NG_008692.2:g.60992_61003dup
NM_001257374.3:c.1439_1450dup
NM_001282626.2:c.1775_1786dup
NM_170707.4:c.1775_1786dupMANE SELECT
NM_170708.4:c.1685_1696dup
NP_001244303.1:p.Gly480_Ala483dup
NP_001269555.1:p.Gly592_Ala595dup
NP_733821.1:p.Gly592_Ala595dup
NP_733822.1:p.Gly562_Ala565dup
LRG_254:g.60992_61003dup
NC_000001.10:g.156108352_156108353insCGGGCAGCCTGC
NC_000001.10:g.156108355_156108366dup

Links:

dbSNP: rs2102901536

NCBI 1000 Genomes Browser:

rs2102901536

Molecular consequence:

NM_001257374.3:c.1439_1450dup - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001282626.2:c.1775_1786dup - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_170707.4:c.1775_1786dup - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_170708.4:c.1685_1696dup - inframe_insertion - [Sequence Ontology: SO:0001821]

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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002206101	Invitae	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Jul 7, 2023)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002206101

Invitae

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Jul 7, 2023)

germline

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical 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, SCV002206101.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

Description

In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. ClinVar contains an entry for this variant (Variation ID: 1425744). This variant has not been reported in the literature in individuals affected with LMNA-related conditions. This variant is not present in population databases (gnomAD no frequency). This variant, c.1775_1786dup, results in the insertion of 4 amino acid(s) of the LMNA protein (p.Gly592_Ala595dup), but otherwise preserves the integrity of the reading frame.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Mar 5, 2024

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