NM_005222.4(DLX6):c.430G>C (p.Asp144His) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: May 25, 2022
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:: RCV004376283.1

Allele description [Variation Report for NM_005222.4(DLX6):c.430G>C (p.Asp144His)]

NM_005222.4(DLX6):c.430G>C (p.Asp144His)

Genes:

DLX6-AS1:DLX6 antisense RNA 1 [Gene - HGNC]
DLX6:distal-less homeobox 6 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

7q21.3

Genomic location:

Preferred name:

NM_005222.4(DLX6):c.430G>C (p.Asp144His)

HGVS:

NC_000007.14:g.97006407G>C
NG_178282.1:g.204G>C
NM_005222.4:c.430G>CMANE SELECT
NP_005213.3:p.Asp144His
NC_000007.13:g.96635719G>C
NM_005222.3:c.430G>C

Protein change:

D144H

Molecular consequence:

NM_005222.4:c.430G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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SAMN07462550 (1)
SRA
Sporidesmiella hyalosperma strain KUNCC 24-18004 internal transcribed spacer 1, ...
Sporidesmiella hyalosperma strain KUNCC 24-18004 internal transcribed spacer 1, partial sequence; 5.8S ribosomal RNA gene and internal transcribed spacer 2, complete sequence; and large subunit ribosomal RNA gene, partial sequence
gi|2791381509|gb|PQ222351.1|

Nucleotide
Sporidesmiella hyalosperma strain MFLUCC 18-1013 large subunit ribosomal RNA gen...
Sporidesmiella hyalosperma strain MFLUCC 18-1013 large subunit ribosomal RNA gene, partial sequence
gi|1935641528|gb|MW287773.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004857962	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (May 25, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004857962

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(May 25, 2022)

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, SCV004857962.1

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

Description

The c.430G>C (p.D144H) alteration is located in exon 1 (coding exon 1) of the DLX6 gene. This alteration results from a G to C substitution at nucleotide position 430, causing the aspartic acid (D) at amino acid position 144 to be replaced by a histidine (H). 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 7, 2024

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