NM_004592.4(SFSWAP):c.2126G>A (p.Ser709Asn) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jan 23, 2024
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:: RCV004455815.1

Allele description [Variation Report for NM_004592.4(SFSWAP):c.2126G>A (p.Ser709Asn)]

NM_004592.4(SFSWAP):c.2126G>A (p.Ser709Asn)

Gene:

SFSWAP:splicing factor SWAP [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

12q24.33

Genomic location:

Preferred name:

NM_004592.4(SFSWAP):c.2126G>A (p.Ser709Asn)

HGVS:

NC_000012.12:g.131766292G>A
NM_001261411.2:c.2126G>A
NM_004592.4:c.2126G>AMANE SELECT
NP_001248340.1:p.Ser709Asn
NP_004583.2:p.Ser709Asn
NC_000012.11:g.132250837G>A
NM_004592.2:c.2126G>A

Protein change:

S709N

Molecular consequence:

NM_001261411.2:c.2126G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_004592.4:c.2126G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

Recent activity

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Leptodactylus sp. 51bm 16S ribosomal RNA gene, partial sequence; mitochondrial
Leptodactylus sp. 51bm 16S ribosomal RNA gene, partial sequence; mitochondrial
gi|158905670|gb|EU201125.1|

Nucleotide
txid81828[Organism:noexp] (4)
Protein
Homo sapiens zona pellucida like domain containing 1 (ZPLD1), transcript variant...
Homo sapiens zona pellucida like domain containing 1 (ZPLD1), transcript variant 2, mRNA
gi|1890267920|ref|NM_001329788.2|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004947481	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Jan 23, 2024)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004947481

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Jan 23, 2024)

germline

clinical testing

Citation Link

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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, SCV004947481.1

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

Description

The c.2126G>A (p.S709N) alteration is located in exon 13 (coding exon 13) of the SFSWAP gene. This alteration results from a G to A substitution at nucleotide position 2126, causing the serine (S) at amino acid position 709 to be replaced by an asparagine (N). 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: May 7, 2024

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