NM_002112.4(HDC):c.1775T>C (p.Val592Ala) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Dec 14, 2021
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:: RCV004122990.1

Allele description [Variation Report for NM_002112.4(HDC):c.1775T>C (p.Val592Ala)]

NM_002112.4(HDC):c.1775T>C (p.Val592Ala)

Gene:

HDC:histidine decarboxylase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

15q21.2

Genomic location:

Preferred name:

NM_002112.4(HDC):c.1775T>C (p.Val592Ala)

HGVS:

NC_000015.10:g.50242474A>G
NG_027487.1:g.28492T>C
NM_001306146.2:c.1676T>C
NM_002112.4:c.1775T>CMANE SELECT
NP_001293075.1:p.Val559Ala
NP_002103.2:p.Val592Ala
NC_000015.9:g.50534671A>G
NM_002112.3:c.1775T>C

Protein change:

V559A

Molecular consequence:

NM_001306146.2:c.1676T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_002112.4:c.1775T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

Recent activity

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BTB/POZ domain-containing protein At2g13690-like [Cucurbita moschata]
BTB/POZ domain-containing protein At2g13690-like [Cucurbita moschata]
gi|1279818403|ref|XP_022962888.1|

Protein
BTB/POZ domain-containing protein At2g13690-like [Cucurbita pepo subsp. pepo]
BTB/POZ domain-containing protein At2g13690-like [Cucurbita pepo subsp. pepo]
gi|1333174702|ref|XP_023518419.1|

Protein
protein LIKE COV 2-like [Cucurbita moschata]
protein LIKE COV 2-like [Cucurbita moschata]
gi|1279793347|ref|XP_022949800.1|

Protein
G-type lectin S-receptor-like serine/threonine-protein kinase At1g11300 isoform ...
G-type lectin S-receptor-like serine/threonine-protein kinase At1g11300 isoform X2 [Cucurbita maxima]
gi|1281033481|ref|XP_023001216.1|

Protein
WD repeat-containing protein 44 [Cucumis sativus]
WD repeat-containing protein 44 [Cucumis sativus]
gi|449461887|ref|XP_004148673.1|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003595805	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Dec 14, 2021)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003595805

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Dec 14, 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	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Ambry Genetics, SCV003595805.2

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

Description

The c.1775T>C (p.V592A) alteration is located in exon 12 (coding exon 12) of the HDC gene. This alteration results from a T to C substitution at nucleotide position 1775, causing the valine (V) at amino acid position 592 to be replaced by an alanine (A). 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: Nov 3, 2024

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