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NM_001155.5(ANXA6):c.1235A>G (p.Asp412Gly) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 18, 2023
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:
RCV004271010.1

Allele description [Variation Report for NM_001155.5(ANXA6):c.1235A>G (p.Asp412Gly)]

NM_001155.5(ANXA6):c.1235A>G (p.Asp412Gly)

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.1235A>G (p.Asp412Gly)
HGVS:
  • NC_000005.10:g.151122259T>C
  • NM_001155.5:c.1235A>GMANE SELECT
  • NM_001193544.2:c.1139A>G
  • NM_001363114.2:c.1235A>G
  • NP_001146.2:p.Asp412Gly
  • NP_001180473.1:p.Asp380Gly
  • NP_001350043.1:p.Asp412Gly
  • NC_000005.9:g.150501820T>C
  • NM_001155.4:c.1235A>G
Protein change:
D380G
Molecular consequence:
  • NM_001155.5:c.1235A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001193544.2:c.1139A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001363114.2:c.1235A>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
SCV003894331Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Jan 18, 2023) 		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, SCV003894331.2

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

Description

The c.1235A>G (p.D412G) alteration is located in exon 17 (coding exon 16) of the ANXA6 gene. This alteration results from a A to G substitution at nucleotide position 1235, causing the aspartic acid (D) at amino acid position 412 to be replaced by a glycine (G). 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