NM_213607.3(CCDC103):c.461A>C (p.His154Pro) AND not provided

Germline classification:: Pathogenic (3 submissions)
Last evaluated:: Oct 1, 2021
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV000723879.27

Allele description [Variation Report for NM_213607.3(CCDC103):c.461A>C (p.His154Pro)]

NM_213607.3(CCDC103):c.461A>C (p.His154Pro)

Gene:

CCDC103:coiled-coil domain containing 103 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17q21.31

Genomic location:

Preferred name:

NM_213607.3(CCDC103):c.461A>C (p.His154Pro)

Other names:

NM_001258395.1(CCDC103):c.461A>C(p.His154Pro); NM_001258396.1(CCDC103):c.461A>C(p.His154Pro); NM_213607.2(CCDC103):c.461A>C(p.His154Pro)

HGVS:

NC_000017.11:g.44902549A>C
NG_032674.1:g.2077T>G
NG_032792.1:g.7838A>C
NM_001258395.2:c.461A>C
NM_001258396.2:c.461A>C
NM_001258397.3:c.*211A>C
NM_001258398.3:c.*150A>C
NM_001258399.2:c.*150A>C
NM_213607.3:c.461A>CMANE SELECT
NP_001245324.1:p.His154Pro
NP_001245325.1:p.His154Pro
NP_998772.1:p.His154Pro
NC_000017.10:g.42979917A>C
NM_001258395.2:c.461A>C
NM_213607.1:c.461A>C
NM_213607.2:c.461A>C
Q8IW40:p.His154Pro

Protein change:

H154P; HIS154PRO

Links:

UniProtKB: Q8IW40#VAR_068449; OMIM: 614677.0002; dbSNP: rs145457535

NCBI 1000 Genomes Browser:

rs145457535

Molecular consequence:

NM_001258397.3:c.*211A>C - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001258398.3:c.*150A>C - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001258399.2:c.*150A>C - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001258395.2:c.461A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001258396.2:c.461A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_213607.3:c.461A>C - missense variant - [Sequence Ontology: SO:0001583]

Observations:

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
SCV000331579	Eurofins Ntd Llc (ga)	criteria provided, single submitter (EGL Classification Definitions 2015)	Pathogenic (Dec 29, 2015)	germline	clinical testing	Citation Link,
SCV001250434	CeGaT Center for Human Genetics Tuebingen	criteria provided, single submitter (CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)	Pathogenic (Oct 1, 2021)	germline	clinical testing	Citation Link,
SCV001983134	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Pathogenic (Sep 30, 2021)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000331579

Eurofins Ntd Llc (ga)

criteria provided, single submitter

(EGL Classification Definitions 2015)

Pathogenic
(Dec 29, 2015)

germline

clinical testing

Citation Link,

SCV001250434

CeGaT Center for Human Genetics Tuebingen

criteria provided, single submitter

(CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)

Pathogenic
(Oct 1, 2021)

germline

clinical testing

Citation Link,

SCV001983134

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Pathogenic
(Sep 30, 2021)

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	unknown	5	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	yes	1	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Eurofins Ntd Llc (ga), SCV000331579.4

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	5	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		5	not provided	not provided	not provided

From CeGaT Center for Human Genetics Tuebingen, SCV001250434.20

#	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	yes	not provided	not provided	not provided		1	not provided	not provided	not provided

From GeneDx, SCV001983134.2

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

Description

Published functional studies in zebra fish suggest a damaging effect with partial rescue of axis curvature or cilia motility phenotypes. In addition, reduced cilia beat amplitude or loss of beat coordination and cilia paralysis was observed in respiratory cells from patients homozygous for this variant (Panizzi et al,. 2012); This variant is associated with the following publications: (PMID: 30238669, 24357714, 22581229, 31469207, 23891469, 27637300, 26123568, 31273583, 28790179, 29363216, 31879361, 31980526, 32447765)

#	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: May 7, 2024

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