NM_001110792.2(MECP2):c.244T>C (p.Ser82Pro) AND not provided

Germline classification:: Uncertain significance (2 submissions)
Last evaluated:: Feb 29, 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:: RCV000678236.2

Allele description [Variation Report for NM_001110792.2(MECP2):c.244T>C (p.Ser82Pro)]

NM_001110792.2(MECP2):c.244T>C (p.Ser82Pro)

Gene:

MECP2:methyl-CpG binding protein 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xq28

Genomic location:

Preferred name:

NM_001110792.2(MECP2):c.244T>C (p.Ser82Pro)

HGVS:

NC_000023.11:g.154032376A>G
NG_007107.3:g.109728T>C
NM_001110792.2:c.244T>CMANE SELECT
NM_001316337.2:c.-72T>C
NM_001369391.2:c.-72T>C
NM_001369392.2:c.-72T>C
NM_001369393.2:c.-72T>C
NM_001369394.2:c.-72T>C
NM_001386137.1:c.-353T>C
NM_001386138.1:c.-353T>C
NM_001386139.1:c.-353T>C
NM_004992.4:c.208T>C
NP_001104262.1:p.Ser82Pro
NP_004983.1:p.Ser70Pro
NP_004983.1:p.Ser70Pro
LRG_764t1:c.244T>C
LRG_764t2:c.208T>C
LRG_764:g.109728T>C
LRG_764p1:p.Ser82Pro
LRG_764p2:p.Ser70Pro
NC_000023.10:g.153297827A>G
NG_007107.2:g.109752T>C
NM_004992.3:c.208T>C
p.(Ser70Pro)

Protein change:

S70P

Links:

dbSNP: rs1557137884

NCBI 1000 Genomes Browser:

rs1557137884

Molecular consequence:

NM_001316337.2:c.-72T>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001369391.2:c.-72T>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001369392.2:c.-72T>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001369393.2:c.-72T>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001369394.2:c.-72T>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001386137.1:c.-353T>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001386138.1:c.-353T>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001386139.1:c.-353T>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001110792.2:c.244T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_004992.4:c.208T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000804258	Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia See additional submitters Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia	no assertion criteria provided	Uncertain significance (Apr 3, 2015)	germline	clinical testing
SCV005385163	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Uncertain significance (Feb 29, 2024)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000804258

Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia

See additional submitters

no assertion criteria provided

Uncertain significance
(Apr 3, 2015)

germline

clinical testing

SCV005385163

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Uncertain significance
(Feb 29, 2024)

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	yes	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia, SCV000804258.1

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

From GeneDx, SCV005385163.1

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

Description

Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Nov 3, 2024

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