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

Recent activity

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RCC1 and BTB domain-containing protein 2 [Mus musculus]
RCC1 and BTB domain-containing protein 2 [Mus musculus]
gi|282396060|ref|NP_001164165.1|

Protein
Mus musculus peroxisomal biogenesis factor 6 (Pex6), transcript variant 1, mRNA
Mus musculus peroxisomal biogenesis factor 6 (Pex6), transcript variant 1, mRNA
gi|1430540339|ref|NM_145488.2|

Nucleotide
GATOR1 complex protein DEPDC5 isoform 3 [Mus musculus]
GATOR1 complex protein DEPDC5 isoform 3 [Mus musculus]
gi|2220916831|ref|NP_001391242.1|

Protein
Mus musculus RNA binding motif protein 27 (Rbm27), transcript variant 4, mRNA
Mus musculus RNA binding motif protein 27 (Rbm27), transcript variant 4, mRNA
gi|2252660159|ref|NM_001408211.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003894331	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Jan 18, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003894331

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Jan 18, 2023)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Ambry Genetics, SCV003894331.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not 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.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Oct 26, 2024

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