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NM_002292.4(LAMB2):c.4075A>G (p.Ser1359Gly) AND multiple conditions

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Feb 11, 2021
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:
RCV002016900.6

Allele description [Variation Report for NM_002292.4(LAMB2):c.4075A>G (p.Ser1359Gly)]

NM_002292.4(LAMB2):c.4075A>G (p.Ser1359Gly)

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.4075A>G (p.Ser1359Gly)
HGVS:
  • NC_000003.12:g.49123281T>C
  • NG_008094.1:g.14886A>G
  • NG_054716.1:g.2658A>G
  • NM_002292.4:c.4075A>GMANE SELECT
  • NP_002283.3:p.Ser1359Gly
  • NC_000003.11:g.49160714T>C
Protein change:
S1359G
Links:
dbSNP: rs2107637455
NCBI 1000 Genomes Browser:
rs2107637455
Molecular consequence:
  • NM_002292.4:c.4075A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Pierson syndrome
Synonyms:
Microcoria and congenital nephrotic syndrome; MICROCORIA-CONGENITAL NEPHROTIC SYNDROME
Identifiers:
MONDO: MONDO:0012184; MedGen: C1836876; Orphanet: 2670; OMIM: 609049
Name:
LAMB2-related infantile-onset nephrotic syndrome
Synonyms:
Nephrotic syndrome, type 5, with or without ocular abnormalities; NEPHROTIC SYNDROME, TYPE 5, WITHOUT OCULAR ABNORMALITIES; NEPHROTIC SYNDROME, TYPE 5, WITH OCULAR ABNORMALITIES
Identifiers:
MONDO: MONDO:0013621; MedGen: C3280113; Orphanet: 306507; OMIM: 614199

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002307226Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Uncertain significance
(Feb 11, 2021) 		germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

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

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV002307226.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with LAMB2-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces serine with glycine at codon 1359 of the LAMB2 protein (p.Ser1359Gly). The serine residue is highly conserved and there is a small physicochemical difference between serine and glycine.

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

Last Updated: Sep 29, 2024