NM_177965.4(CFAP418):c.126G>C (p.Arg42=) AND not specified

Germline classification:: Benign (2 submissions)
Last evaluated:: Sep 1, 2016
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:: RCV000322042.6

Allele description [Variation Report for NM_177965.4(CFAP418):c.126G>C (p.Arg42=)]

NM_177965.4(CFAP418):c.126G>C (p.Arg42=)

Genes:

LOC130000784:ATAC-STARR-seq lymphoblastoid active region 27655 [Gene]
CFAP418-AS1:CFAP418 antisense RNA 1 [Gene - HGNC]
CFAP418:cilia and flagella associated protein 418 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

8q22.1

Genomic location:

Preferred name:

NM_177965.4(CFAP418):c.126G>C (p.Arg42=)

HGVS:

NC_000008.11:g.95269064C>G
NG_032804.1:g.5171G>C
NM_001363260.1:c.126G>C
NM_177965.4:c.126G>CMANE SELECT
NP_001350189.1:p.Arg42=
NP_808880.1:p.Arg42=
NC_000008.10:g.96281292C>G
NM_177965.3:c.126G>C

Links:

dbSNP: rs115853053

NCBI 1000 Genomes Browser:

rs115853053

Molecular consequence:

NM_001363260.1:c.126G>C - synonymous variant - [Sequence Ontology: SO:0001819]
NM_177965.4:c.126G>C - synonymous variant - [Sequence Ontology: SO:0001819]

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
SCV000345484	Eurofins Ntd Llc (ga)	criteria provided, single submitter (EGL Classification Definitions 2015)	Benign (Sep 1, 2016)	germline	clinical testing	Citation Link,
SCV001917412	Clinical Genetics, Academic Medical Center - VKGL Data-share Consensus See additional submitters Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	no assertion criteria provided	Benign	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000345484

Eurofins Ntd Llc (ga)

criteria provided, single submitter

(EGL Classification Definitions 2015)

Benign
(Sep 1, 2016)

germline

clinical testing

Citation Link,

SCV001917412

Clinical Genetics, Academic Medical Center - VKGL Data-share Consensus

See additional submitters

no assertion criteria provided

Benign

germline

clinical testing

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	1	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Eurofins Ntd Llc (ga), SCV000345484.4

#	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

From Clinical Genetics, Academic Medical Center - VKGL Data-share Consensus, SCV001917412.1

#	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	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Feb 20, 2024

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