NM_000188.3(HK1):c.250G>A (p.Asp84Asn) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Sep 3, 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:: RCV002038673.6

Allele description [Variation Report for NM_000188.3(HK1):c.250G>A (p.Asp84Asn)]

NM_000188.3(HK1):c.250G>A (p.Asp84Asn)

Gene:

HK1:hexokinase 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

10q22.1

Genomic location:

Preferred name:

NM_000188.3(HK1):c.250G>A (p.Asp84Asn)

HGVS:

NC_000010.11:g.69359920G>A
NG_012077.1:g.94921G>A
NM_000188.3:c.250G>AMANE SELECT
NM_001322364.2:c.262G>A
NM_001322365.2:c.355G>A
NM_001322366.1:c.166G>A
NM_001322367.1:c.250G>A
NM_001358263.1:c.262G>A
NM_033496.3:c.247G>A
NM_033497.3:c.262G>A
NM_033498.3:c.262G>A
NM_033500.2:c.214G>A
NP_000179.2:p.Asp84Asn
NP_001309293.1:p.Asp88Asn
NP_001309294.1:p.Asp119Asn
NP_001309295.1:p.Asp56Asn
NP_001309296.1:p.Asp84Asn
NP_001345192.1:p.Asp88Asn
NP_277031.1:p.Asp83Asn
NP_277032.1:p.Asp88Asn
NP_277033.1:p.Asp88Asn
NP_277035.2:p.Asp72Asn
LRG_365t1:c.214G>A
LRG_365:g.94921G>A
LRG_365p1:p.Asp72Asn
NC_000010.10:g.71119676G>A

Protein change:

D119N

Links:

dbSNP: rs2132762309

NCBI 1000 Genomes Browser:

rs2132762309

Molecular consequence:

NM_000188.3:c.250G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001322364.2:c.262G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001322365.2:c.355G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001322366.1:c.166G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001322367.1:c.250G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001358263.1:c.262G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_033496.3:c.247G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_033497.3:c.262G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_033498.3:c.262G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_033500.2:c.214G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002312807	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Sep 3, 2023)	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

SCV002312807

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Sep 3, 2023)

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. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV002312807.3

#	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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt HK1 protein function. ClinVar contains an entry for this variant (Variation ID: 1520416). This missense change has been observed in individual(s) with clinical features of retinitis pigmentosa (Invitae). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 84 of the HK1 protein (p.Asp84Asn).

#	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: Sep 29, 2024

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Relating variation to medicine