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NM_002292.4(LAMB2):c.4097A>G (p.His1366Arg) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jun 29, 2023
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:
RCV003365528.2

Allele description [Variation Report for NM_002292.4(LAMB2):c.4097A>G (p.His1366Arg)]

NM_002292.4(LAMB2):c.4097A>G (p.His1366Arg)

Gene:
LAMB2:laminin subunit beta 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
3p21.31
Genomic location:
Preferred name:
NM_002292.4(LAMB2):c.4097A>G (p.His1366Arg)
HGVS:
  • NC_000003.12:g.49123259T>C
  • NG_008094.1:g.14908A>G
  • NG_054716.1:g.2680A>G
  • NM_002292.4:c.4097A>GMANE SELECT
  • NP_002283.3:p.His1366Arg
  • NC_000003.11:g.49160692T>C
  • NM_002292.3:c.4097A>G
Protein change:
H1366R
Links:
dbSNP: rs201519651
NCBI 1000 Genomes Browser:
rs201519651
Molecular consequence:
  • NM_002292.4:c.4097A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

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

Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004072654Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Jun 29, 2023) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Ambry Genetics, SCV004072654.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The c.4097A>G (p.H1366R) alteration is located in exon 26 (coding exon 26) of the LAMB2 gene. This alteration results from a A to G substitution at nucleotide position 4097, causing the histidine (H) at amino acid position 1366 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024