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NM_182765.6(HECTD2):c.1508G>A (p.Arg503Gln) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Mar 7, 2024
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:
RCV004401793.1

Allele description [Variation Report for NM_182765.6(HECTD2):c.1508G>A (p.Arg503Gln)]

NM_182765.6(HECTD2):c.1508G>A (p.Arg503Gln)

Genes:
HECTD2:HECT domain E3 ubiquitin protein ligase 2 [Gene - HGNC]
HECTD2-AS1:HECTD2 antisense RNA 1 [Gene - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
10q23.32
Genomic location:
Preferred name:
NM_182765.6(HECTD2):c.1508G>A (p.Arg503Gln)
HGVS:
  • NC_000010.11:g.91493495G>A
  • NM_001284274.3:c.1520G>A
  • NM_001348365.2:c.1187G>A
  • NM_182765.6:c.1508G>AMANE SELECT
  • NP_001271203.2:p.Arg507Gln
  • NP_001335294.1:p.Arg396Gln
  • NP_877497.4:p.Arg503Gln
  • NC_000010.10:g.93253252G>A
  • NM_182765.3:c.1508G>A
  • NR_104291.3:n.1565G>A
  • NR_145526.2:n.1603G>A
Protein change:
R396Q
Molecular consequence:
  • NM_001284274.3:c.1520G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001348365.2:c.1187G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_182765.6:c.1508G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NR_104291.3:n.1565G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_145526.2:n.1603G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

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
SCV004881208Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Mar 7, 2024) 		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, SCV004881208.1

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

Description

The c.1508G>A (p.R503Q) alteration is located in exon 14 (coding exon 14) of the HECTD2 gene. This alteration results from a G to A substitution at nucleotide position 1508, causing the arginine (R) at amino acid position 503 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: May 7, 2024