NM_017780.4(CHD7):c.8950C>T (p.Leu2984Phe) AND not provided

Germline classification:: Benign (3 submissions)
Last evaluated:: Jul 1, 2024
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:: RCV000514783.21

Allele description [Variation Report for NM_017780.4(CHD7):c.8950C>T (p.Leu2984Phe)]

NM_017780.4(CHD7):c.8950C>T (p.Leu2984Phe)

Gene:

CHD7:chromodomain helicase DNA binding protein 7 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

8q12.2

Genomic location:

Preferred name:

NM_017780.4(CHD7):c.8950C>T (p.Leu2984Phe)

HGVS:

NC_000008.11:g.60865889C>T
NG_007009.1:g.192110C>T
NM_001316690.1:c.2803C>T
NM_017780.4:c.8950C>TMANE SELECT
NP_001303619.1:p.Leu935Phe
NP_060250.2:p.Leu2984Phe
LRG_176t1:c.8950C>T
LRG_176:g.192110C>T
LRG_176p1:p.Leu2984Phe
NC_000008.10:g.61778448C>T
NM_017780.2:c.8950C>T
NM_017780.3:c.8950C>T
Q9P2D1:p.Leu2984Phe
p.[Leu2984Phe]

Protein change:

L2984F

Links:

UniProtKB: Q9P2D1#VAR_068160; dbSNP: rs184814820

NCBI 1000 Genomes Browser:

rs184814820

Molecular consequence:

NM_001316690.1:c.2803C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_017780.4:c.8950C>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

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Influenza A virus (A/Malaysia/10717/1999(H3N2)) polymerase PB1 (PB1) and PB1-F2 ...
Influenza A virus (A/Malaysia/10717/1999(H3N2)) polymerase PB1 (PB1) and PB1-F2 protein (PB1-F2) genes, complete cds
gi|387534609|gnl|NIGSP|NIGSP_MALA_0 PB1|gb|CY118480.1|

Nucleotide
Chain A, Protease
Chain A, Protease
gi|699027404|pdb|3WSJ|A

Protein
Polyphosphate--glucose phosphotransferase [Haliscomenobacter hydrossis DSM 1100]
Polyphosphate--glucose phosphotransferase [Haliscomenobacter hydrossis DSM 1100]
gi|332332932|gnl|jgi|Halhy_2148|gb| 033.1|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000610550	Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	criteria provided, single submitter (ACMG Guidelines, 2015)	Benign (Mar 31, 2017)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV001798394	Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) - VKGL Data-share Consensus	no assertion criteria provided	Likely benign	germline	clinical testing
SCV004155891	CeGaT Center for Human Genetics Tuebingen	criteria provided, single submitter (CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)	Benign (Jul 1, 2024)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000610550

Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Benign
(Mar 31, 2017)

germline

clinical testing

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

SCV001798394

Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) - VKGL Data-share Consensus

no assertion criteria provided

Likely benign

germline

clinical testing

SCV004155891

CeGaT Center for Human Genetics Tuebingen

criteria provided, single submitter

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

Benign
(Jul 1, 2024)

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	not provided	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	yes	7	not provided	not provided	not provided	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 Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics, SCV000610550.1

#	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	not provided	not provided	not provided	not provided		not provided	0.002679	not provided	not provided

From Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) - VKGL Data-share Consensus, SCV001798394.1

#	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

From CeGaT Center for Human Genetics Tuebingen, SCV004155891.8

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	7	not provided	not provided	clinical testing	not provided

Description

CHD7: BP4, BS1, BS2

#	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		7	not provided	not provided	not provided

Last Updated: Sep 16, 2024

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