NM_170707.4(LMNA):c.1699-2A>G AND Familial partial lipodystrophy, Dunnigan type

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Jan 26, 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:: RCV001706860.1

Allele description [Variation Report for NM_170707.4(LMNA):c.1699-2A>G]

NM_170707.4(LMNA):c.1699-2A>G

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.1699-2A>G

HGVS:

NC_000001.11:g.156138486A>G
NG_008692.2:g.60914A>G
NM_001257374.3:c.1363-2A>G
NM_001282626.2:c.1699-2A>G
NM_001406983.1:c.1699-2A>G
NM_001406985.1:c.1699-2A>G
NM_001406986.1:c.1456-2A>G
NM_001406987.1:c.1456-2A>G
NM_001406988.1:c.1402-2A>G
NM_001406989.1:c.1363-2A>G
NM_001406990.1:c.1141-2A>G
NM_001406991.1:c.1699-2A>G
NM_001406993.1:c.1141-2A>G
NM_001406994.1:c.1075-2A>G
NM_001406995.1:c.1141-2A>G
NM_001406996.1:c.1141-2A>G
NM_001406997.1:c.1141-2A>G
NM_001406999.1:c.1075-2A>G
NM_001407000.1:c.1075-2A>G
NM_001407001.1:c.1075-2A>G
NM_170707.4:c.1699-2A>GMANE SELECT
NM_170708.4:c.1609-2A>G
LRG_254:g.60914A>G
NC_000001.10:g.156108277A>G

Links:

dbSNP: rs2102901069

NCBI 1000 Genomes Browser:

rs2102901069

Molecular consequence:

NM_001257374.3:c.1363-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001282626.2:c.1699-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001406983.1:c.1699-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001406985.1:c.1699-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001406986.1:c.1456-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001406987.1:c.1456-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001406988.1:c.1402-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001406989.1:c.1363-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001406990.1:c.1141-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001406991.1:c.1699-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001406993.1:c.1141-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001406994.1:c.1075-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001406995.1:c.1141-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001406996.1:c.1141-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001406997.1:c.1141-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001406999.1:c.1075-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407000.1:c.1075-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407001.1:c.1075-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_170707.4:c.1699-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_170708.4:c.1609-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]

Condition(s)

Name:: Familial partial lipodystrophy, Dunnigan type
Synonyms:: Familial partial lipodystrophy 2; Lipodystrophy, familial, of limbs and lower trunk; Lipodystrophy, reverse partial; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0007906; MedGen: C1720860; Orphanet: 2348; OMIM: 151660

Recent activity

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Cladophora sericea partial 28S rRNA gene, specimen voucher S84.35/Cser1 (F518)
Cladophora sericea partial 28S rRNA gene, specimen voucher S84.35/Cser1 (F518)
gi|144225347|emb|AM503474.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001934401	Institute of Human Genetics, University of Leipzig Medical Center	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Jan 26, 2021)	unknown	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

SCV001934401

Institute of Human Genetics, University of Leipzig Medical Center

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Jan 26, 2021)

unknown

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	unknown	yes	not provided	not provided	not provided	not provided	not provided	clinical 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 Institute of Human Genetics, University of Leipzig Medical Center, SCV001934401.1

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

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

Last Updated: Dec 24, 2023

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