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NM_000426.4(LAMA2):c.4312-19_4312-17del AND not provided

Germline classification:
Conflicting interpretations of pathogenicity (2 submissions)
Last evaluated:
May 10, 2016
Review status:
criteria provided, conflicting classifications
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:
RCV000078768.11

Allele description [Variation Report for NM_000426.4(LAMA2):c.4312-19_4312-17del]

NM_000426.4(LAMA2):c.4312-19_4312-17del

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.4312-19_4312-17del
HGVS:
  • NC_000006.12:g.129342321TCT[1]
  • NG_008678.1:g.464181TCT[1]
  • NM_000426.4:c.4312-19_4312-17delMANE SELECT
  • NM_001079823.2:c.4312-19_4312-17del
  • LRG_409:g.464181TCT[1]
  • NC_000006.11:g.129663466TCT[1]
  • NM_000426.3:c.4312-19_4312-17delTCT
Links:
dbSNP: rs398123374
NCBI 1000 Genomes Browser:
rs398123374
Molecular consequence:
  • NM_000426.4:c.4312-19_4312-17del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001079823.2:c.4312-19_4312-17del - intron variant - [Sequence Ontology: SO:0001627]
Observations:
4

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000110628Eurofins Ntd Llc (ga)
criteria provided, single submitter

(EGL Classification Definitions 2015)		Uncertain significance
(Sep 11, 2012) 		germlineclinical testing

Citation Link,

SCV001895121GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Benign
(May 10, 2016) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing
not providedgermlineunknown4not providednot providednot providednot providedclinical testing

Details of each submission

From Eurofins Ntd Llc (ga), SCV000110628.8

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided4not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided4not providednot providednot provided

From GeneDx, SCV001895121.1

#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: Feb 4, 2024