NM_013446.4(MKRN1):c.440G>A (p.Gly147Asp) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Sep 7, 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:: RCV004202237.1

Allele description [Variation Report for NM_013446.4(MKRN1):c.440G>A (p.Gly147Asp)]

NM_013446.4(MKRN1):c.440G>A (p.Gly147Asp)

Gene:

MKRN1:makorin ring finger protein 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

7q34

Genomic location:

Preferred name:

NM_013446.4(MKRN1):c.440G>A (p.Gly147Asp)

HGVS:

NC_000007.14:g.140459811C>T
NM_001145125.2:c.440G>A
NM_001291663.2:c.248G>A
NM_013446.4:c.440G>AMANE SELECT
NP_001138597.1:p.Gly147Asp
NP_001278592.1:p.Gly83Asp
NP_038474.2:p.Gly147Asp
NC_000007.13:g.140159611C>T
NM_013446.3:c.440G>A

Protein change:

G147D

Molecular consequence:

NM_001145125.2:c.440G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001291663.2:c.248G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_013446.4:c.440G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

Recent activity

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essv25796062 (0)
PMC
nssv2791054 AND (alive[prop]) (0)
Gene
nssv2791166 (0)
GEO DataSets
nssv2791054 (0)
GEO DataSets
Anthoxanthum utriculatum var. altissimum isolate Halti4_1b clone 3 external tran...
Anthoxanthum utriculatum var. altissimum isolate Halti4_1b clone 3 external transcribed spacer, partial sequence
gi|1272609635|gb|MF688337.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003707826	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Sep 7, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003707826

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Sep 7, 2022)

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, SCV003707826.2

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

Description

The c.440G>A (p.G147D) alteration is located in exon 3 (coding exon 3) of the MKRN1 gene. This alteration results from a G to A substitution at nucleotide position 440, causing the glycine (G) at amino acid position 147 to be replaced by an aspartic acid (D). 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 10, 2024

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