NM_001491.3(GCNT2):c.403A>G (p.Lys135Glu) AND Cataract 13 with adult I phenotype

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: May 27, 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:: RCV001981242.5

Allele description [Variation Report for NM_001491.3(GCNT2):c.403A>G (p.Lys135Glu)]

NM_001491.3(GCNT2):c.403A>G (p.Lys135Glu)

Gene:

GCNT2:glucosaminyl (N-acetyl) transferase 2 (I blood group) [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

6p24.3

Genomic location:

Preferred name:

NM_001491.3(GCNT2):c.403A>G (p.Lys135Glu)

HGVS:

NC_000006.12:g.10556826A>G
NG_007469.3:g.69604A>G
NM_001374747.1:c.925+26990A>G
NM_001491.2:c.403A>G
NM_001491.3:c.403A>G
NM_145649.5:c.925+26990A>GMANE SELECT
NP_001482.1:p.Lys135Glu
LRG_819t2:c.925+26990A>G
LRG_819:g.69604A>G
NC_000006.11:g.10557059A>G

Protein change:

K135E

Links:

dbSNP: rs770940749

NCBI 1000 Genomes Browser:

rs770940749

Molecular consequence:

NM_001374747.1:c.925+26990A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_145649.5:c.925+26990A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001491.3:c.403A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Cataract 13 with adult I phenotype
Identifiers:: MONDO: MONDO:0007289; MedGen: C3805373; Orphanet: 91492; OMIM: 116700

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002280811	Invitae	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (May 27, 2021)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002280811

Invitae

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(May 27, 2021)

germline

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical 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):240-242.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From Invitae, SCV002280811.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with GCNT2-related conditions. This variant is present in population databases (rs770940749, ExAC 0.006%). This sequence change replaces lysine with glutamic acid at codon 135 of the GCNT2 protein (p.Lys135Glu). The lysine residue is highly conserved and there is a small physicochemical difference between lysine and glutamic acid.

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

Last Updated: May 7, 2024

ClinVar

Relating variation to medicine