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NM_022078.3(GPATCH3):c.25G>C (p.Glu9Gln) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Nov 8, 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:
RCV004171148.1

Allele description [Variation Report for NM_022078.3(GPATCH3):c.25G>C (p.Glu9Gln)]

NM_022078.3(GPATCH3):c.25G>C (p.Glu9Gln)

Genes:
LOC129929851:ATAC-STARR-seq lymphoblastoid active region 530 [Gene]
GPATCH3:G-patch domain containing 3 [Gene - OMIM - HGNC]
NUDC:nuclear distribution C, dynein complex regulator [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1p36.11
Genomic location:
Preferred name:
NM_022078.3(GPATCH3):c.25G>C (p.Glu9Gln)
HGVS:
  • NC_000001.11:g.26900418C>G
  • NM_022078.3:c.25G>CMANE SELECT
  • NP_071361.2:p.Glu9Gln
  • NC_000001.10:g.27226909C>G
  • NM_022078.2:c.25G>C
Protein change:
E9Q
Molecular consequence:
  • NM_022078.3:c.25G>C - 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
SCV003657740Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Nov 8, 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, SCV003657740.2

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

Description

The c.25G>C (p.E9Q) alteration is located in exon 1 (coding exon 1) of the GPATCH3 gene. This alteration results from a G to C substitution at nucleotide position 25, causing the glutamic acid (E) at amino acid position 9 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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

Last Updated: Nov 3, 2024