NM_006662.3(SRCAP):c.7571C>G (p.Ser2524Cys) AND not specified

Germline classification:: Benign (1 submission)
Last evaluated:: Mar 20, 2018
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:: RCV000732169.5

Allele description [Variation Report for NM_006662.3(SRCAP):c.7571C>G (p.Ser2524Cys)]

NM_006662.3(SRCAP):c.7571C>G (p.Ser2524Cys)

Gene:

SRCAP:Snf2 related CREBBP activator protein [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

16p11.2

Genomic location:

Preferred name:

NM_006662.3(SRCAP):c.7571C>G (p.Ser2524Cys)

HGVS:

NC_000016.10:g.30737611C>G
NG_032135.1:g.43471C>G
NM_006662.3:c.7571C>GMANE SELECT
NP_006653.2:p.Ser2524Cys
NC_000016.9:g.30748932C>G
NM_006662.2:c.7571C>G

Protein change:

S2524C

Links:

dbSNP: rs75125670

NCBI 1000 Genomes Browser:

rs75125670

Molecular consequence:

NM_006662.3:c.7571C>G - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000860081	Eurofins Ntd Llc (ga)	criteria provided, single submitter (EGL ClinVar v180209 classification definitions)	Benign (Mar 20, 2018)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000860081

Eurofins Ntd Llc (ga)

criteria provided, single submitter

(EGL ClinVar v180209 classification definitions)

Benign
(Mar 20, 2018)

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	1	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Eurofins Ntd Llc (ga), SCV000860081.2

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

#	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		1	not provided	not provided	not provided

Last Updated: May 25, 2025

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