NM_001110792.2(MECP2):c.1490_*12del (p.Val497fs) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Oct 23, 2020
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:: RCV001268134.2

Allele description [Variation Report for NM_001110792.2(MECP2):c.1490_*12del (p.Val497fs)]

NM_001110792.2(MECP2):c.1490_*12del (p.Val497fs)

Gene:

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

Variant type:

Deletion

Cytogenetic location:

Xq28

Genomic location:

Preferred name:

NM_001110792.2(MECP2):c.1490_*12del (p.Val497fs)

HGVS:

NC_000023.11:g.154030358_154030377del
NG_007107.2:g.111754_111773del
NM_001110792.2:c.1490_*12delMANE SELECT
NM_001316337.2:c.1175_*12del
NM_001369391.2:c.1175_*12del
NM_001369392.2:c.1175_*12del
NM_001369393.2:c.1175_*12del
NM_001369394.2:c.1175_*12del
NM_001386137.1:c.785_*12del
NM_001386138.1:c.785_*12del
NM_001386139.1:c.785_*12del
NM_004992.4:c.1454_*12del
NP_001104262.1:p.Val497fs
NP_001303266.1:p.Val392fs
NP_001356320.1:p.Val392fs
NP_001356321.1:p.Val392fs
NP_001356322.1:p.Val392fs
NP_001356323.1:p.Val392fs
NP_001373066.1:p.Val262fs
NP_001373067.1:p.Val262fs
NP_001373068.1:p.Val262fs
NP_004983.1:p.Val485fs
LRG_764t1:c.1490_*12del
LRG_764t2:c.1454_*12del
LRG_764p1:p.Val497fs
LRG_764p2:p.Val485fs
NC_000023.10:g.153295809_153295828del

Protein change:

V262fs

Links:

dbSNP: rs2065899494

NCBI 1000 Genomes Browser:

rs2065899494

Molecular consequence:

NM_001110792.2:c.1490_*12del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001316337.2:c.1175_*12del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001369391.2:c.1175_*12del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001369392.2:c.1175_*12del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001369393.2:c.1175_*12del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001369394.2:c.1175_*12del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001386137.1:c.785_*12del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001386138.1:c.785_*12del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001386139.1:c.785_*12del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_004992.4:c.1454_*12del - frameshift variant - [Sequence Ontology: SO:0001589]

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
SCV001446812	Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Oct 23, 2020)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001446812

Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Oct 23, 2020)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

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	1	not provided	clinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen, SCV001446812.1

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

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

Last Updated: Jun 23, 2024

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