NM_007023.4(RAPGEF4):c.2953A>G (p.Ser985Gly) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Feb 27, 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:: RCV004250358.1

Allele description [Variation Report for NM_007023.4(RAPGEF4):c.2953A>G (p.Ser985Gly)]

NM_007023.4(RAPGEF4):c.2953A>G (p.Ser985Gly)

Gene:

RAPGEF4:Rap guanine nucleotide exchange factor 4 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2q31.1

Genomic location:

Preferred name:

NM_007023.4(RAPGEF4):c.2953A>G (p.Ser985Gly)

HGVS:

NC_000002.12:g.173051684A>G
NM_001100397.2:c.2521A>G
NM_001282899.2:c.2494A>G
NM_001282900.2:c.2440A>G
NM_001282901.2:c.2293A>G
NM_001375864.1:c.2923A>G
NM_001375865.1:c.2920A>G
NM_001375866.1:c.2899A>G
NM_001375867.1:c.2860A>G
NM_001375868.1:c.2806A>G
NM_001375869.1:c.2800A>G
NM_001375870.1:c.*38A>G
NM_001375871.1:c.2752A>G
NM_001375872.1:c.2749A>G
NM_001375873.1:c.2746A>G
NM_001375874.1:c.*38A>G
NM_007023.4:c.2953A>GMANE SELECT
NP_001093867.1:p.Ser841Gly
NP_001269828.1:p.Ser832Gly
NP_001269829.1:p.Ser814Gly
NP_001269830.1:p.Ser765Gly
NP_001362793.1:p.Ser975Gly
NP_001362794.1:p.Ser974Gly
NP_001362795.1:p.Ser967Gly
NP_001362796.1:p.Ser954Gly
NP_001362797.1:p.Ser936Gly
NP_001362798.1:p.Ser934Gly
NP_001362800.1:p.Ser918Gly
NP_001362801.1:p.Ser917Gly
NP_001362802.1:p.Ser916Gly
NP_008954.2:p.Ser985Gly
NC_000002.11:g.173916412A>G
NM_007023.3:c.2953A>G
NR_164739.1:n.3224A>G
NR_164740.1:n.3170A>G
NR_164741.1:n.2950A>G

Protein change:

S765G

Molecular consequence:

NM_001375870.1:c.*38A>G - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001375874.1:c.*38A>G - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001100397.2:c.2521A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001282899.2:c.2494A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001282900.2:c.2440A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001282901.2:c.2293A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001375864.1:c.2923A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001375865.1:c.2920A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001375866.1:c.2899A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001375867.1:c.2860A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001375868.1:c.2806A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001375869.1:c.2800A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001375871.1:c.2752A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001375872.1:c.2749A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001375873.1:c.2746A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_007023.4:c.2953A>G - missense variant - [Sequence Ontology: SO:0001583]
NR_164739.1:n.3224A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_164740.1:n.3170A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_164741.1:n.2950A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

Recent activity

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PREDICTED: Rattus norvegicus heterogeneous nuclear ribonucleoprotein A2/B1 (Hnrn...
PREDICTED: Rattus norvegicus heterogeneous nuclear ribonucleoprotein A2/B1 (Hnrnpa2b1), transcript variant X22, mRNA
gi|2678938493|ref|XM_063286267.1|

Nucleotide
cytochrome c oxidase subunit II (mitochondrion) [Myioborus torquatus]
cytochrome c oxidase subunit II (mitochondrion) [Myioborus torquatus]
gi|308224732|gb|ADO23171.1|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003871366	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Feb 27, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003871366

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Feb 27, 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, SCV003871366.2

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

Description

The c.2953A>G (p.S985G) alteration is located in exon 31 (coding exon 31) of the RAPGEF4 gene. This alteration results from a A to G substitution at nucleotide position 2953, causing the serine (S) at amino acid position 985 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: Nov 10, 2024

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