NM_000426.4(LAMA2):c.6195GAA[2] (p.Lys2067del) AND Merosin deficient congenital muscular dystrophy

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jan 19, 2018
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:: RCV000672201.1

Allele description [Variation Report for NM_000426.4(LAMA2):c.6195GAA[2] (p.Lys2067del)]

NM_000426.4(LAMA2):c.6195GAA[2] (p.Lys2067del)

Genes:

LOC123864065:Sharpr-MPRA regulatory region 661 [Gene]
LAMA2:laminin subunit alpha 2 [Gene - OMIM - HGNC]

Variant type:

Microsatellite

Cytogenetic location:

6q22.33

Genomic location:

Preferred name:

NM_000426.4(LAMA2):c.6195GAA[2] (p.Lys2067del)

HGVS:

NC_000006.12:g.129440925GAA[2]
NG_008678.1:g.562785GAA[2]
NM_000426.4:c.6195GAA[2]MANE SELECT
NM_001079823.2:c.6195GAA[2]
NP_000417.3:p.Lys2067del
NP_001073291.2:p.Lys2067del
LRG_409:g.562785GAA[2]
NC_000006.11:g.129762070GAA[2]
NC_000006.11:g.129762070_129762072del

Protein change:

K2067del

Links:

dbSNP: rs758495000

NCBI 1000 Genomes Browser:

rs758495000

Molecular consequence:

NM_000426.4:c.6195GAA[2] - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001079823.2:c.6195GAA[2] - inframe_deletion - [Sequence Ontology: SO:0001822]

Condition(s)

Name:: Merosin deficient congenital muscular dystrophy (MDC1A)
Synonyms:: Muscular dystrophy congenital, merosin negative; Congenital merosin-deficient muscular dystrophy 1A
Identifiers:: MONDO: MONDO:0011925; MedGen: C1263858; Orphanet: 258; OMIM: 607855

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000797282	Counsyl	criteria provided, single submitter (Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))	Uncertain significance (Jan 19, 2018)	unknown	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000797282

Counsyl

criteria provided, single submitter

(Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))

Uncertain significance
(Jan 19, 2018)

unknown

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Counsyl, SCV000797282.1

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

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

Last Updated: Sep 29, 2024

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