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NM_000426.4(LAMA2):c.1854_1861dup (p.Leu621fs) AND Inborn genetic diseases

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Feb 5, 2016
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:
RCV000624032.2

Allele description [Variation Report for NM_000426.4(LAMA2):c.1854_1861dup (p.Leu621fs)]

NM_000426.4(LAMA2):c.1854_1861dup (p.Leu621fs)

Gene:
LAMA2:laminin subunit alpha 2 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
6q22.33
Genomic location:
Preferred name:
NM_000426.4(LAMA2):c.1854_1861dup (p.Leu621fs)
HGVS:
  • NC_000006.12:g.129250183_129250190dup
  • NG_008678.1:g.372043_372050dup
  • NM_000426.4:c.1854_1861dupMANE SELECT
  • NM_001079823.2:c.1854_1861dup
  • NP_000417.3:p.Leu621fs
  • NP_001073291.2:p.Leu621fs
  • LRG_409:g.372043_372050dup
  • NC_000006.11:g.129571327_129571328insACGTGTTC
  • NC_000006.11:g.129571328_129571335dup
  • NM_000426.3:c.1854_1861dupACGTGTTC
  • NM_000426.4:c.1854_1861dup
Protein change:
L621fs
Links:
dbSNP: rs202247791
NCBI 1000 Genomes Browser:
rs202247791
Molecular consequence:
  • NM_000426.4:c.1854_1861dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001079823.2:c.1854_1861dup - frameshift variant - [Sequence Ontology: SO:0001589]
Observations:
1

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000741359Ambry Genetics
criteria provided, single submitter

(Ambry exome assertion method (8-5-2015))		Pathogenic
(Feb 5, 2016) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
African American/Caucasian/Hispanic/Native Americangermlineyes1not providednot provided1not providedclinical testing

Details of each submission

From Ambry Genetics, SCV000741359.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1African American/Caucasian/Hispanic/Native American1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyes1not providednot provided1not providednot providednot provided

Last Updated: Sep 29, 2024