NM_013347.4(RPA4):c.88G>C (p.Ala30Pro) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Sep 16, 2021
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:: RCV004079166.1

Allele description [Variation Report for NM_013347.4(RPA4):c.88G>C (p.Ala30Pro)]

NM_013347.4(RPA4):c.88G>C (p.Ala30Pro)

Genes:

DIAPH2:diaphanous related formin 2 [Gene - OMIM - HGNC]
RPA4:replication protein A4 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xq21.33

Genomic location:

Preferred name:

NM_013347.4(RPA4):c.88G>C (p.Ala30Pro)

HGVS:

NC_000023.11:g.96884398G>C
NG_008433.2:g.204736G>C
NG_008433.3:g.204558G>C
NG_013259.2:g.5386G>C
NM_006729.5:c.587+2680G>CMANE SELECT
NM_007309.4:c.587+2680G>C
NM_013347.4:c.88G>CMANE SELECT
NP_037479.1:p.Ala30Pro
NC_000023.10:g.96139397G>C

Protein change:

A30P

Molecular consequence:

NM_006729.5:c.587+2680G>C - intron variant - [Sequence Ontology: SO:0001627]
NM_007309.4:c.587+2680G>C - intron variant - [Sequence Ontology: SO:0001627]
NM_013347.4:c.88G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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Model organism or animal sample from Ovis aries
Model organism or animal sample from Ovis aries

biosample
aldehyde dehydrogenase family 16 member A1 isoform X1 [Rattus norvegicus]
aldehyde dehydrogenase family 16 member A1 isoform X1 [Rattus norvegicus]
gi|564328162|ref|XP_006229162.1|

Protein
Aeromonas sp. A19(2011) DNA gyrase subunit A (gyrA) gene, partial cds
Aeromonas sp. A19(2011) DNA gyrase subunit A (gyrA) gene, partial cds
gi|329124300|gb|JF343814.1|

Nucleotide
Sulawesidrobia 16S ribosomal RNA gene, partial sequence; mitochondrial.
Sulawesidrobia 16S ribosomal RNA gene, partial sequence; mitochondrial.
PopSet: 313758291

PopSet
Advanced Renal Pelvis and Ureter Urothelial Carcinoma
Advanced Renal Pelvis and Ureter Urothelial Carcinoma

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003530043	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Sep 16, 2021)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003530043

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Sep 16, 2021)

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, SCV003530043.2

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

Description

The c.88G>C (p.A30P) alteration is located in exon 1 (coding exon 1) of the RPA4 gene. This alteration results from a G to C substitution at nucleotide position 88, causing the alanine (A) at amino acid position 30 to be replaced by a proline (P). 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: Nov 3, 2024

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