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NM_001159390.2(GUK1):c.*19G>A AND not specified

Germline classification:
Likely benign (1 submission)
Last evaluated:
Aug 3, 2022
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:
RCV004245158.1

Allele description [Variation Report for NM_001159390.2(GUK1):c.*19G>A]

NM_001159390.2(GUK1):c.*19G>A

Gene:
GUK1:guanylate kinase 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1q42.13
Genomic location:
Preferred name:
NM_001159390.2(GUK1):c.*19G>A
HGVS:
  • NC_000001.11:g.228148716G>A
  • NG_011838.1:g.3865G>A
  • NM_000858.7:c.*19G>A
  • NM_001159390.2:c.*19G>AMANE SELECT
  • NM_001159391.3:c.*19G>A
  • NM_001242839.1:c.*19G>A
  • NM_001242840.3:c.590G>A
  • NP_001229769.1:p.Arg197Gln
  • NC_000001.10:g.228336417G>A
  • NM_001242840.1:c.590G>A
Protein change:
R197Q
Molecular consequence:
  • NM_000858.7:c.*19G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001159390.2:c.*19G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001159391.3:c.*19G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001242839.1:c.*19G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001242840.3:c.590G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003759438Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely benign
(Aug 3, 2022) 		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, SCV003759438.3

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

Description

This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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

Last Updated: Nov 3, 2024