NM_170707.4(LMNA):c.522del (p.Ala175fs) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Mar 19, 2024
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:: RCV000182387.4

Allele description [Variation Report for NM_170707.4(LMNA):c.522del (p.Ala175fs)]

NM_170707.4(LMNA):c.522del (p.Ala175fs)

Gene:

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

Variant type:

Deletion

Cytogenetic location:

1q22

Genomic location:

Preferred name:

NM_170707.4(LMNA):c.522del (p.Ala175fs)

HGVS:

NC_000001.11:g.156134411del
NG_008692.2:g.56839del
NM_001257374.3:c.186del
NM_001282624.2:c.279del
NM_001282625.2:c.522del
NM_001282626.2:c.522del
NM_005572.4:c.522del
NM_170707.4:c.522delMANE SELECT
NM_170708.4:c.522del
NP_001244303.1:p.Ala63fs
NP_001269553.1:p.Ala94fs
NP_001269554.1:p.Ala175fs
NP_001269555.1:p.Ala175fs
NP_005563.1:p.Ala175fs
NP_733821.1:p.Ala175fs
NP_733822.1:p.Ala175fs
LRG_254t2:c.522del
LRG_254:g.56839del
NC_000001.10:g.156104202del
NM_170707.2:c.522del
NM_170707.2:c.522delA
p.A175PfsX2

Protein change:

A175fs

Links:

dbSNP: rs794728606

NCBI 1000 Genomes Browser:

rs794728606

Molecular consequence:

NM_001257374.3:c.186del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001282624.2:c.279del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001282625.2:c.522del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001282626.2:c.522del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_005572.4:c.522del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_170707.4:c.522del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_170708.4:c.522del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000234724	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Pathogenic (Mar 19, 2024)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000234724

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Pathogenic
(Mar 19, 2024)

germline

clinical testing

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	clinical testing

Details of each submission

From GeneDx, SCV000234724.10

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

Description

Has not been previously published as pathogenic or benign to our knowledge; Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed in large population cohorts (gnomAD)

#	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: Jul 23, 2024

ClinVar

Relating variation to medicine