NM_170707.4(LMNA):c.1968+5G>C AND Hutchinson-Gilford syndrome

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

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jan 8, 2015
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:: RCV000192019.1

Allele description

NM_170707.4(LMNA):c.1968+5G>C

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.1968+5G>C

HGVS:

NC_000001.11:g.156138762G>C
NG_008692.2:g.61190G>C
NM_001257374.3:c.1632+5G>C
NM_001282626.2:c.1818+155G>C
NM_170707.4:c.1968+5G>CMANE SELECT
NM_170708.4:c.1878+5G>C
LRG_254t2:c.1968+5G>C
LRG_254:g.61190G>C
NC_000001.10:g.156108553G>C
NM_170707.2:c.1968+5G>C

Links:

dbSNP: rs797044488

NCBI 1000 Genomes Browser:

rs797044488

Molecular consequence:

NM_001257374.3:c.1632+5G>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001282626.2:c.1818+155G>C - intron variant - [Sequence Ontology: SO:0001627]
NM_170707.4:c.1968+5G>C - intron variant - [Sequence Ontology: SO:0001627]
NM_170708.4:c.1878+5G>C - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:: Hutchinson-Gilford syndrome (HGPS)
Synonyms:: Progerin-producing progeroid laminopathy
Identifiers:: MONDO: MONDO:0008310; MedGen: C0033300; Orphanet: 740; OMIM: 176670

Recent activity

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Fam78a family with sequence similarity 78, member A [Mus musculus]
Fam78a family with sequence similarity 78, member A [Mus musculus]
Gene ID:241303

Gene
241303[uid] AND (alive[prop]) (1)
Gene
zinc-binding alcohol dehydrogenase family protein [Methylobacterium radiotoleran...
zinc-binding alcohol dehydrogenase family protein [Methylobacterium radiotolerans JCM 2831]
gi|170655545|gnl|jgi|Mrad2831_2614| B24600.1|

Protein
DA926598 SMINT2 Homo sapiens cDNA clone SMINT2013614 5', mRNA sequence
DA926598 SMINT2 Homo sapiens cDNA clone SMINT2013614 5', mRNA sequence
gi|82102766|gnl|dbEST|33721658|dbj| 598.1|

Nucleotide
soat1 [Oncorhynchus tshawytscha]
soat1 [Oncorhynchus tshawytscha]
Gene ID:112251021

Gene

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000196626	GeneReviews	no assertion criteria provided	Pathogenic (Jan 8, 2015)	germline	literature only	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000196626

GeneReviews

no assertion criteria provided

Pathogenic
(Jan 8, 2015)

germline

literature only

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	literature only

Details of each submission

From GeneReviews, SCV000196626.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	not provided

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

Last Updated: Apr 23, 2022

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