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NM_001008216.2(GALE):c.770A>G (p.Lys257Arg) AND not provided

Germline classification:
Conflicting interpretations of pathogenicity; other (3 submissions)
Last evaluated:
Feb 1, 2024
Review status:
criteria provided, conflicting classifications
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:
RCV000592410.25

Allele description [Variation Report for NM_001008216.2(GALE):c.770A>G (p.Lys257Arg)]

NM_001008216.2(GALE):c.770A>G (p.Lys257Arg)

Gene:
GALE:UDP-galactose-4-epimerase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1p36.11
Genomic location:
Preferred name:
NM_001008216.2(GALE):c.770A>G (p.Lys257Arg)
HGVS:
  • NC_000001.11:g.23796722T>C
  • NG_007068.1:g.9083A>G
  • NM_000403.4:c.770A>G
  • NM_001008216.2:c.770A>GMANE SELECT
  • NM_001127621.2:c.770A>G
  • NP_000394.2:p.Lys257Arg
  • NP_000394.2:p.Lys257Arg
  • NP_001008217.1:p.Lys257Arg
  • NP_001121093.1:p.Lys257Arg
  • NC_000001.10:g.24123212T>C
  • NM_000403.3:c.770A>G
  • Q14376:p.Lys257Arg
Protein change:
K257R; LYS257ARG
Links:
UniProtKB: Q14376#VAR_002544; OMIM: 606953.0005; dbSNP: rs28940884
NCBI 1000 Genomes Browser:
rs28940884
Molecular consequence:
  • NM_000403.4:c.770A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001008216.2:c.770A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127621.2:c.770A>G - missense variant - [Sequence Ontology: SO:0001583]
Observations:
35

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000700362Eurofins Ntd Llc (ga)
criteria provided, single submitter

(EGL Classification Definitions 2015)
other
(Jul 14, 2017)
germlineclinical testing

Citation Link,

SCV003799128Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center
criteria provided, single submitter

(ACMG Guidelines, 2015)
Uncertain significance
(Oct 19, 2022)
germlineclinical testing

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

SCV004700471CeGaT Center for Human Genetics Tuebingen
criteria provided, single submitter

(CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)
Benign
(Feb 1, 2024)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown34not providednot providednot providednot providedclinical testing
not providedgermlineyes1not providednot providednot providednot providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Eurofins Ntd Llc (ga), SCV000700362.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided34not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided34not providednot providednot provided

From Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center, SCV003799128.2

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

Description

PS3_Supporting, BA1

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

From CeGaT Center for Human Genetics Tuebingen, SCV004700471.6

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

GALE: BS1, BS2

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Sep 29, 2024