NM_177939.3(P4HTM):c.556A>C (p.Met186Leu) AND Inborn genetic diseases

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Dec 14, 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:: RCV004497621.1

Allele description [Variation Report for NM_177939.3(P4HTM):c.556A>C (p.Met186Leu)]

NM_177939.3(P4HTM):c.556A>C (p.Met186Leu)

Gene:

P4HTM:prolyl 4-hydroxylase, transmembrane [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

3p21.31

Genomic location:

Preferred name:

NM_177939.3(P4HTM):c.556A>C (p.Met186Leu)

HGVS:

NC_000003.12:g.49001557A>C
NM_177938.2:c.556A>C
NM_177939.3:c.556A>CMANE SELECT
NP_808807.2:p.Met186Leu
NP_808808.1:p.Met186Leu
NC_000003.11:g.49038990A>C

Protein change:

M186L

Molecular consequence:

NM_177938.2:c.556A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_177939.3:c.556A>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

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

Recent activity

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traB domain-containing protein isoform b [Homo sapiens]
traB domain-containing protein isoform b [Homo sapiens]
gi|1819229375|ref|NP_001365691.1|

Protein
arsenite methyltransferase isoform X2 [Mus musculus]
arsenite methyltransferase isoform X2 [Mus musculus]
gi|1720395545|ref|XP_030106865.1|

Protein
Homo sapiens RNA binding motif protein 38 (RBM38), transcript variant 2, mRNA
Homo sapiens RNA binding motif protein 38 (RBM38), transcript variant 2, mRNA
gi|1676319238|ref|NM_183425.3|

Nucleotide
Uncultured Obesumbacterium sp. isolate TTGE gel band O8 RpoB-like (rpoB) gene, p...
Uncultured Obesumbacterium sp. isolate TTGE gel band O8 RpoB-like (rpoB) gene, partial sequence
gi|229464531|gb|FJ719160.1|

Nucleotide
Uncultured Obesumbacterium sp. clone CTL-55 16S ribosomal RNA gene, partial sequ...
Uncultured Obesumbacterium sp. clone CTL-55 16S ribosomal RNA gene, partial sequence
gi|390431708|gb|JQ799022.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004998264	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Dec 14, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004998264

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Dec 14, 2023)

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, SCV004998264.1

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

Description

The c.556A>C (p.M186L) alteration is located in exon 3 (coding exon 3) of the P4HTM gene. This alteration results from a A to C substitution at nucleotide position 556, causing the methionine (M) at amino acid position 186 to be replaced by a leucine (L). 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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