NM_138809.4(CMBL):c.574C>T (p.Gln192Ter) AND not provided

This record was updated by the submitter. Please see the current version.

Germline classification:: Benign (1 submission)
Last evaluated:: Jan 19, 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:: RCV000961592.3

Allele description

NM_138809.4(CMBL):c.574C>T (p.Gln192Ter)

Gene:

CMBL:carboxymethylenebutenolidase homolog [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

5p15.2

Genomic location:

Preferred name:

NM_138809.4(CMBL):c.574C>T (p.Gln192Ter)

HGVS:

NC_000005.10:g.10280617G>A
NM_138809.4:c.574C>TMANE SELECT
NP_620164.1:p.Gln192Ter
NC_000005.9:g.10280729G>A
NM_138809.3:c.574C>T

Protein change:

Q192*

Links:

dbSNP: rs114442248

NCBI 1000 Genomes Browser:

rs114442248

Molecular consequence:

NM_138809.4:c.574C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

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Homo sapiens genomic DNA; cDNA DKFZp547L1918 (from clone DKFZp547L1918)
Homo sapiens genomic DNA; cDNA DKFZp547L1918 (from clone DKFZp547L1918)
gi|21733142|emb|AL832567.1|

Nucleotide
host cell factor 1 isoform X6 [Homo sapiens]
host cell factor 1 isoform X6 [Homo sapiens]
gi|2462629226|ref|XP_054182920.1|

Protein
host cell factor 1 isoform X15 [Homo sapiens]
host cell factor 1 isoform X15 [Homo sapiens]
gi|2217391915|ref|XP_047298017.1|

Protein
PREDICTED: Homo sapiens amphiphysin (AMPH), transcript variant X6, mRNA
PREDICTED: Homo sapiens amphiphysin (AMPH), transcript variant X6, mRNA
gi|2462613722|ref|XM_054357912.1|

Nucleotide
transferrin-binding protein-like solute binding protein [Neisseria gonorrhoeae]
transferrin-binding protein-like solute binding protein [Neisseria gonorrhoeae]
gi|913378415|ref|WP_050389673.1|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001108641	Invitae	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Benign (Jan 19, 2018)	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

SCV001108641

Invitae

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Benign
(Jan 19, 2018)

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	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From Invitae, SCV001108641.1

#	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	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Dec 24, 2023

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