NM_015045.5(WAPL):c.3011A>G (p.Asn1004Ser) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Oct 2, 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:: RCV004485357.1

Allele description [Variation Report for NM_015045.5(WAPL):c.3011A>G (p.Asn1004Ser)]

NM_015045.5(WAPL):c.3011A>G (p.Asn1004Ser)

Gene:

WAPL:WAPL cohesin release factor [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

10q23.2

Genomic location:

Preferred name:

NM_015045.5(WAPL):c.3011A>G (p.Asn1004Ser)

HGVS:

NC_000010.11:g.86452070T>C
NM_001318328.2:c.2993A>G
NM_015045.5:c.3011A>GMANE SELECT
NP_001305257.1:p.Asn998Ser
NP_055860.1:p.Asn1004Ser
NC_000010.10:g.88211827T>C
NM_015045.2:c.3011A>G

Protein change:

N1004S

Molecular consequence:

NM_001318328.2:c.2993A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_015045.5:c.3011A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

Recent activity

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protamine 3 [Mus musculus musculus]
protamine 3 [Mus musculus musculus]
gi|329750108|gb|AEC03090.1|

Protein
Mus musculus cytochrome P450, family 2, subfamily d, polypeptide 34 (Cyp2d34), m...
Mus musculus cytochrome P450, family 2, subfamily d, polypeptide 34 (Cyp2d34), mRNA
gi|100817352|ref|NM_145474.2|

Nucleotide
RecName: Full=NFATC2-interacting protein; AltName: Full=45 kDa NF-AT-interacting...
RecName: Full=NFATC2-interacting protein; AltName: Full=45 kDa NF-AT-interacting protein; Short=45 kDa NFAT-interacting protein; AltName: Full=Nuclear factor of activated T-cells, cytoplasmic 2-interacting protein
gi|81861086|sp|O09130.1|NF2IP_MOUSE

Protein
FAM245B family with sequence similarity 245 member B [Homo sapiens]
FAM245B family with sequence similarity 245 member B [Homo sapiens]
Gene ID:102724643

Gene

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004980973	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Oct 2, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004980973

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Oct 2, 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, SCV004980973.1

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

Description

The c.3011A>G (p.N1004S) alteration is located in exon 15 (coding exon 14) of the WAPL gene. This alteration results from a A to G substitution at nucleotide position 3011, causing the asparagine (N) at amino acid position 1004 to be replaced by a serine (S). 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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