U.S. flag

An official website of the United States government

NM_170707.4(LMNA):c.95A>C (p.Lys32Thr) AND Congenital muscular dystrophy due to LMNA mutation

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Apr 1, 2023
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV003326722.1

Allele description [Variation Report for NM_170707.4(LMNA):c.95A>C (p.Lys32Thr)]

NM_170707.4(LMNA):c.95A>C (p.Lys32Thr)

Genes:
LOC129931597:ATAC-STARR-seq lymphoblastoid silent region 1421 [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.95A>C (p.Lys32Thr)
HGVS:
  • NC_000001.11:g.156115013A>C
  • NG_008692.2:g.37441A>C
  • NG_164640.1:g.180A>C
  • NM_001282625.2:c.95A>C
  • NM_001282626.2:c.95A>C
  • NM_001406983.1:c.95A>C
  • NM_001406984.1:c.95A>C
  • NM_001406985.1:c.95A>C
  • NM_001406986.1:c.-329A>C
  • NM_001406990.1:c.-307A>C
  • NM_001406991.1:c.95A>C
  • NM_001406992.1:c.95A>C
  • NM_001406993.1:c.-203+8190A>C
  • NM_001406994.1:c.-570A>C
  • NM_001406995.1:c.-307A>C
  • NM_001406999.1:c.-750A>C
  • NM_001407000.1:c.-570A>C
  • NM_001407001.1:c.-413A>C
  • NM_001407002.1:c.-307A>C
  • NM_001407003.1:c.-203+8190A>C
  • NM_005572.4:c.95A>C
  • NM_170707.4:c.95A>CMANE SELECT
  • NM_170708.4:c.95A>C
  • NP_001269554.1:p.Lys32Thr
  • NP_001269555.1:p.Lys32Thr
  • NP_001393912.1:p.Lys32Thr
  • NP_001393913.1:p.Lys32Thr
  • NP_001393914.1:p.Lys32Thr
  • NP_001393920.1:p.Lys32Thr
  • NP_001393921.1:p.Lys32Thr
  • NP_005563.1:p.Lys32Thr
  • NP_005563.1:p.Lys32Thr
  • NP_733821.1:p.Lys32Thr
  • NP_733821.1:p.Lys32Thr
  • NP_733822.1:p.Lys32Thr
  • NP_733822.1:p.Lys32Thr
  • LRG_254t1:c.95A>C
  • LRG_254t2:c.95A>C
  • LRG_254t3:c.95A>C
  • LRG_254:g.37441A>C
  • LRG_254p1:p.Lys32Thr
  • LRG_254p2:p.Lys32Thr
  • LRG_254p3:p.Lys32Thr
  • NC_000001.10:g.156084804A>C
  • NM_005572.3:c.95A>C
  • NM_170707.2:c.95A>C
  • NM_170708.2:c.95A>C
  • NR_047544.1:n.736A>C
Protein change:
K32T
Links:
dbSNP: rs2527830691
NCBI 1000 Genomes Browser:
rs2527830691
Molecular consequence:
  • NM_001406986.1:c.-329A>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001406990.1:c.-307A>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001406994.1:c.-570A>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001406995.1:c.-307A>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001406999.1:c.-750A>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001407000.1:c.-570A>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001407001.1:c.-413A>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001407002.1:c.-307A>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001406993.1:c.-203+8190A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407003.1:c.-203+8190A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001282625.2:c.95A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001282626.2:c.95A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406983.1:c.95A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406984.1:c.95A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406985.1:c.95A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406991.1:c.95A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406992.1:c.95A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_005572.4:c.95A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_170707.4:c.95A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_170708.4:c.95A>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Congenital muscular dystrophy due to LMNA mutation
Synonyms:
Congenital muscular dystrophy, LMNA-related; Lamin A-related Congenital Muscular Dystrophy
Identifiers:
MONDO: MONDO:0013178; MedGen: C2750785; Orphanet: 157973; OMIM: 613205

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003927960Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS)
no assertion criteria provided
Pathogenic
(Apr 1, 2023) 		germlineclinical testing

Help

Summary from all submissions

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

Details of each submission

From Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS), SCV003927960.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: May 16, 2025