NM_058172.6(ANTXR2):c.637-10del AND Hyaline fibromatosis syndrome

Germline classification:: Benign (2 submissions)
Last evaluated:: Sep 16, 2021
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV000365469.6

Allele description [Variation Report for NM_058172.6(ANTXR2):c.637-10del]

NM_058172.6(ANTXR2):c.637-10del

Gene:

ANTXR2:ANTXR cell adhesion molecule 2 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

4q21.21

Genomic location:

Preferred name:

NM_058172.6(ANTXR2):c.637-10del

HGVS:

NC_000004.12:g.80036053del
NG_015987.1:g.42282del
NM_001145794.2:c.637-10del
NM_001286780.2:c.406-10del
NM_001286781.2:c.406-10del
NM_058172.6:c.637-10delMANE SELECT
NC_000004.11:g.80957207del
NM_058172.5:c.637-10delT

Links:

dbSNP: rs373672335

NCBI 1000 Genomes Browser:

rs373672335

Molecular consequence:

NM_001145794.2:c.637-10del - intron variant - [Sequence Ontology: SO:0001627]
NM_001286780.2:c.406-10del - intron variant - [Sequence Ontology: SO:0001627]
NM_001286781.2:c.406-10del - intron variant - [Sequence Ontology: SO:0001627]
NM_058172.6:c.637-10del - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:: Hyaline fibromatosis syndrome (HFS)
Synonyms:: HYALINOSIS, SYSTEMIC; Hyalinosis, Inherited Systemic
Identifiers:: MONDO: MONDO:0009229; MedGen: C5574677; Orphanet: 2028; OMIM: 228600

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000451403	Illumina Laboratory Services, Illumina	criteria provided, single submitter (ICSL Variant Classification 20161018)	Benign (Jun 14, 2016)	germline	clinical testing	ICSL_Variant_Classification_20161018.pdf, Citation Link,
SCV002807233	Fulgent Genetics, Fulgent Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Benign (Sep 16, 2021)	unknown	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000451403

Illumina Laboratory Services, Illumina

criteria provided, single submitter

(ICSL Variant Classification 20161018)

Benign
(Jun 14, 2016)

germline

clinical testing

ICSL_Variant_Classification_20161018.pdf,

Citation Link,

SCV002807233

Fulgent Genetics, Fulgent Genetics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Benign
(Sep 16, 2021)

unknown

clinical testing

PubMed (1)
[See all records that cite this PMID]

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
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee.

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Illumina Laboratory Services, Illumina, SCV000451403.2

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

#	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

From Fulgent Genetics, Fulgent Genetics, SCV002807233.1

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

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Oct 13, 2024

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