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NM_001155.5(ANXA6):c.1176C>G (p.His392Gln) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Dec 13, 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:
RCV004173134.1

Allele description [Variation Report for NM_001155.5(ANXA6):c.1176C>G (p.His392Gln)]

NM_001155.5(ANXA6):c.1176C>G (p.His392Gln)

Gene:
ANXA6:annexin A6 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
5q33.1
Genomic location:
Preferred name:
NM_001155.5(ANXA6):c.1176C>G (p.His392Gln)
HGVS:
  • NC_000005.10:g.151122974G>C
  • NM_001155.5:c.1176C>GMANE SELECT
  • NM_001193544.2:c.1080C>G
  • NM_001363114.2:c.1176C>G
  • NP_001146.2:p.His392Gln
  • NP_001180473.1:p.His360Gln
  • NP_001350043.1:p.His392Gln
  • NC_000005.9:g.150502535G>C
  • NM_001155.4:c.1176C>G
Protein change:
H360Q
Molecular consequence:
  • NM_001155.5:c.1176C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001193544.2:c.1080C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001363114.2:c.1176C>G - 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
SCV003670766Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Dec 13, 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, SCV003670766.2

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

Description

The c.1176C>G (p.H392Q) alteration is located in exon 16 (coding exon 15) of the ANXA6 gene. This alteration results from a C to G substitution at nucleotide position 1176, causing the histidine (H) at amino acid position 392 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: Oct 26, 2024