NM_000515.5(GH1):c.295C>A (p.Leu99Ile) AND Inborn genetic diseases

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Feb 28, 2023
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:: RCV003190019.2

Allele description [Variation Report for NM_000515.5(GH1):c.295C>A (p.Leu99Ile)]

NM_000515.5(GH1):c.295C>A (p.Leu99Ile)

Genes:

GH1:growth hormone 1 [Gene - OMIM - HGNC]
GH-LCR:growth hormone locus control region [Gene]

Variant type:

single nucleotide variant

Cytogenetic location:

17q23.3

Genomic location:

Preferred name:

NM_000515.5(GH1):c.295C>A (p.Leu99Ile)

HGVS:

NC_000017.11:g.63917921G>T
NG_011676.1:g.5918C>A
NG_042788.1:g.829G>T
NM_000515.5:c.295C>AMANE SELECT
NM_022559.4:c.250C>A
NM_022560.4:c.175C>A
NP_000506.2:p.Leu99Ile
NP_072053.1:p.Leu84Ile
NP_072054.1:p.Leu59Ile
NC_000017.10:g.61995281G>T
NM_000515.3:c.295C>A

Protein change:

L59I

Molecular consequence:

NM_000515.5:c.295C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_022559.4:c.250C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_022560.4:c.175C>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Inborn genetic diseases
Identifiers:: MeSH: D030342; MedGen: C0950123

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RecName: Full=Uncharacterized protein C1orf198
RecName: Full=Uncharacterized protein C1orf198
gi|74752632|sp|Q9H425.1|CA198_HUMAN

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003875431	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Feb 28, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003875431

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Feb 28, 2023)

germline

clinical testing

Citation Link

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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

Details of each submission

From Ambry Genetics, SCV003875431.2

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

Description

The c.295C>A (p.L99I) alteration is located in exon 4 (coding exon 4) of the GH1 gene. This alteration results from a C to A substitution at nucleotide position 295, causing the leucine (L) at amino acid position 99 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

#	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: May 1, 2024

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