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NM_001110792.2(MECP2):c.1458T>C (p.Pro486=) AND not specified

Germline classification:
Likely benign (1 submission)
Last evaluated:
Jan 29, 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:
RCV000601197.1

Allele description [Variation Report for NM_001110792.2(MECP2):c.1458T>C (p.Pro486=)]

NM_001110792.2(MECP2):c.1458T>C (p.Pro486=)

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.1458T>C (p.Pro486=)
HGVS:
  • NC_000023.11:g.154030406A>G
  • NG_007107.3:g.111698T>C
  • NM_001110792.2:c.1458T>CMANE SELECT
  • NM_001316337.2:c.1143T>C
  • NM_001369391.2:c.1143T>C
  • NM_001369392.2:c.1143T>C
  • NM_001369393.2:c.1143T>C
  • NM_001369394.2:c.1143T>C
  • NM_001386137.1:c.753T>C
  • NM_001386138.1:c.753T>C
  • NM_001386139.1:c.753T>C
  • NM_004992.4:c.1422T>C
  • NP_001104262.1:p.Pro486=
  • NP_001303266.1:p.Pro381=
  • NP_001356320.1:p.Pro381=
  • NP_001356321.1:p.Pro381=
  • NP_001356322.1:p.Pro381=
  • NP_001356323.1:p.Pro381=
  • NP_001373066.1:p.Pro251=
  • NP_001373067.1:p.Pro251=
  • NP_001373068.1:p.Pro251=
  • NP_004983.1:p.Pro474=
  • NP_004983.1:p.Pro474=
  • LRG_764t1:c.1458T>C
  • LRG_764t2:c.1422T>C
  • LRG_764:g.111698T>C
  • LRG_764p1:p.Pro486=
  • LRG_764p2:p.Pro474=
  • NC_000023.10:g.153295857A>G
  • NG_007107.2:g.111722T>C
  • NM_004992.3:c.1422T>C
Links:
dbSNP: rs1557134910
NCBI 1000 Genomes Browser:
rs1557134910
Molecular consequence:
  • NM_001110792.2:c.1458T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001316337.2:c.1143T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001369391.2:c.1143T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001369392.2:c.1143T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001369393.2:c.1143T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001369394.2:c.1143T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001386137.1:c.753T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001386138.1:c.753T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001386139.1:c.753T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_004992.4:c.1422T>C - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000729553GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Likely benign
(Jan 29, 2018) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV000729553.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024