NM_012305.4(AP2A2):c.2027C>G (p.Pro676Arg) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Mar 25, 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:: RCV004131685.1

Allele description [Variation Report for NM_012305.4(AP2A2):c.2027C>G (p.Pro676Arg)]

NM_012305.4(AP2A2):c.2027C>G (p.Pro676Arg)

Gene:

AP2A2:adaptor related protein complex 2 subunit alpha 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11p15.5

Genomic location:

Preferred name:

NM_012305.4(AP2A2):c.2027C>G (p.Pro676Arg)

HGVS:

NC_000011.10:g.1000502C>G
NM_001242837.2:c.2030C>G
NM_012305.4:c.2027C>GMANE SELECT
NP_001229766.1:p.Pro677Arg
NP_036437.1:p.Pro676Arg
NC_000011.9:g.1000502C>G
NM_001242837.1:c.2030C>G

Protein change:

P676R

Molecular consequence:

NM_001242837.2:c.2030C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_012305.4:c.2027C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

Recent activity

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integral membrane protein DGCR2/IDD isoform X2 [Nothoprocta perdicaria]
integral membrane protein DGCR2/IDD isoform X2 [Nothoprocta perdicaria]
gi|1443649773|ref|XP_025893311.1|

Protein
NLR family member X1 [Eptesicus fuscus]
NLR family member X1 [Eptesicus fuscus]
gi|1571988116|ref|XP_028014214.1|

Protein
Cochliomyia hominivorax isolate UyCn62 D-loop, partial sequence; mitochondrial
Cochliomyia hominivorax isolate UyCn62 D-loop, partial sequence; mitochondrial
gi|1896834285|gb|MT876100.1|

Nucleotide
CR584333 XGC-tailbud-head Xenopus tropicalis cDNA clone THdA022e23 3', mRNA sequ...
CR584333 XGC-tailbud-head Xenopus tropicalis cDNA clone THdA022e23 3', mRNA sequence
gi|50584333|gnl|dbEST|24723990|emb| 333.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003605741	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Mar 25, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003605741

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Mar 25, 2022)

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, SCV003605741.2

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

Description

The c.2030C>G (p.P677R) alteration is located in exon 15 (coding exon 15) of the AP2A2 gene. This alteration results from a C to G substitution at nucleotide position 2030, causing the proline (P) at amino acid position 677 to be replaced by an arginine (R). 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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